Disease #05220 (SIHIWES (Sifrim-Hitz-Weiss syndrome (SIHIWES)), OMIM:617159)

Official abbreviation SIHIWES
Name Sifrim-Hitz-Weiss syndrome (SIHIWES)
OMIM ID 617159
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 47
Phenotype entries for this disease 47
Associated with 1 gene CHD4
Associated tissues -
Disease features global developmental delay, mild to moderate intellectual disability, brain anomalies, congenital heart defects, dysmorphic features, frequent macrocephaly
Remarks -
Date created 2017-02-08 20:54:40 +01:00 (CET)
Date last edited 2025-01-28 08:32:39 +01:00 (CET)


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47 entries on 1 page. Showing entries 1 - 47.
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00100263 - PubMed: Weiss 2016 - M - - - - - - - SIHIWES see paper; ..., Intellectual disability, hearing loss, macrocephaly, bifid uvula, hypogonadotrophic hypogonadism, congenital stroke with moya moya disease CHD4 APOBEC1, CHD4 2 1 Karin Weiss
00100264 - PubMed: Weiss 2016 - F - - - - - - - SIHIWES see paper; ..., Intellectual disability, hearing loss, dysmorphic features, cervial vertebrae fusion, tarsal coalition CHD4 CHD4 1 1 Karin Weiss
00100265 - - - - - - - - - - - SIHIWES see paper; ..., Developmental delay, VSD, ASD, cervical vertebra fusion, tarsal coalition, growth delay - - - 1 Karin Weiss
00100270 - PubMed: Sifrim 2016, Journal: Sifrim 2016 - M - - - - - - - SIHIWES no social smile, sit 13m, walk 2-2.5y, 1st words 2-2.5y, length 94 cm (SD 0.18), OFC 48 cm (SD 2.32), aortic coarctation, sparse eyebrow, thin upper lip vermilion, upslanted palpebral fissure, global developmental delay, motor delay, no seizures, unilateral ptosis, bilateral sensorineural hearing impairment, normal thoracic cavity, wide intermamillary distance, sacral pit, normal limbs CHD4 CHD4 1 1 Johan den Dunnen
00100271 - PubMed: Sifrim 2016, Journal: Sifrim 2016 - M - - - - - - - SIHIWES intial clinical diagnosis Coffin-Lowry, Aarskog, Albrights, UPD14, DiGeorge, OFC 57.7 cm (SD 0.62) , interatrial communication (ASD) and ventricular septal defect, gait imbalance, Arnold-chiari malformation, hypermetropia, abnormality ear, cryptorchidism, cutaneous finger syndactyly, limited elbow extension, broad clavicles, flat acetabular roof, glenoid hypoplasia, lunate-triquetral fusion, short clavicles, short femoral neck CHD4 CHD4 1 1 Johan den Dunnen
00100272 - PubMed: Sifrim 2016, Journal: Sifrim 2016 - M - - - - - - - SIHIWES intial clinical diagnosis Schinzel Giedion, social smilenot yet achieved, sit n ot yet achieved, walk not yet achieved, 1st words not yet achieved, Tetralogy of Fallot, abnormal facial shape, coarse facial features, low-set ears, Abnormality of earlobe, Wormian bones, omphalocele, ambiguous genitalia, anteriorly placed anus, poor corticomedullary differentiation on USS of kidneys, small nail, cholesterol abnormalities also considered CHD4 CHD4 1 1 Johan den Dunnen
00100273 - PubMed: Sifrim 2016, Journal: Sifrim 2016 - F - - - - - - - SIHIWES walk 5y, length 132 cm (SD -1.08), weight 37.4 kg (SD 0.72), OFC 58.2 cm (SD 3.52), pulmonary valvar abnormality, Ventricular septal defect and Interatrial communication (ASD), abnormal facial shape, global developmental delay, motor delay, Arnold-Chiari malformation, hydrocephalus, syringomyelia, astigmatism, postaxial polydactyly (hands), anteriorly placed anus, recurrent urinary tract infections CHD4 CHD4 1 1 Johan den Dunnen
00100274 - PubMed: Sifrim 2016, Journal: Sifrim 2016 - M - - - - - - - SIHIWES sit 11m, walk 2-2.5y, 1st words 11m, length 117 cm (SD -0.09), weight 22.25 kg (SD 0.33), OFC 51 cm (SD -1.47), Tetralogy of Fallot, trigonocephaly, epicanthus, motor delay, moderate intellictual disability, vesicoureteral reflux, cryptorchidism, feeding difficulties in infancy CHD4 CHD4 1 1 Johan den Dunnen
00100275 - PubMed: Weiss 2016, Journal: Weiss 2016 - M - - - - - - - SIHIWES see paper; ..., CHD4 CHD4 1 1 Karin Weiss
00100276 - PubMed: Weiss 2016, Journal: Weiss 2016 - F - - - - - - - SIHIWES see paper; severe developmental delay, growth delay, submucous cleft palate, cervical vertebrae fusion and tarsal coalition, VAS, ASD, PDA, bilateral renal pelviectasis , hydroureter, and a VCUG detected bilateral severe (grade 4) reflux. CHD4 CHD4 1 1 Karin Weiss
00100277 - PubMed: Weiss 2016, Journal: Weiss 2016 - M - - - - - - - SIHIWES see paper; ..., CHD4 CHD4 1 1 Karin Weiss
00100278 - - - - - Germany - - - - - SIHIWES Mild intellectual disability, macrocephaly, hypogonadotrophic hypogonadism, sagittal carniosynostosis. CHD4 CHD4 1 1 Karin Weiss
00100279 - - - - - Germany - - - - - SIHIWES Developmental delay, growth delay, pulmonary stenosis CHD4 CHD4 1 1 Karin Weiss
00363896 179137 - - M ? Bosnia and Herzegovina - - - - - SIHIWES Malposition of fingers, foot deformity, exophthalmos, neck oedema, ventriculomegaly, hypogenitalism, undescended testis, cardiac: ASD, VSD, cardiac arrhythmia, heart structurally normal, supraventricular tachycardia, maturation delay according to EEG, cMRI with ventriculomegaly and septa in the ventricles, dysphagia CHD4, IRF2BPL CHD4, IRF2BPL 2 1 Andreas Laner
00405806 193621 - - F - Germany - - - - - SIHIWES Neurodevelopmental delay, Global developmental delay, Motor delay, Hypotonia, Abnormal facial shape, Abnormal muscle tone CHD4 CHD4 1 1 Andreas Laner
00460297 Pat20 PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 8.5y 130.5cm (53%), weight 8.5y 34.2kg (87%), OFC 8.5y 54.5cm (94%); mild motor delay; speech delay, 4y-first word; borderline intellectual disability (IQ 83); autism, attention-deficit/hyperactivity disorder, mood disturbance, dysgraphia; hypotonia; MRI brain normal; no hearing loss; corrective lenses; ECG normal; micropenis; lumbar lordosis, hyperlaxity, borderline lumbosacral spondylolisthesis, Flatfoot; widely spread upper teeth, crowded lower teeth; no gastrointestinal anomalies - CHD4 1 1 Johan den Dunnen
00460298 Pat21 PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 4y 102.87 cm (56%), weight 4y 15.4 kg (30%), OFC 3y 50.3 cm (66%); motor delay; speech delay; autism; hypotonia; MRI brain normal; no hearing loss; corrective lenses,- astigmatism; ECG normal; no urogenital anomalies; hypothyroidism; no skeletal anomalies; no dental anomalies, no palatal anomalies; gastroesophagial reflux disease, gastroparesis; prematurity 29gw+5; respiratory distress; obstructive sleep apnea - CHD4 1 1 Johan den Dunnen
00460299 Pat15 PubMed: Karimi 2025 - F - - - - - - - SIHIWES height 6y 118.4 cm (75%), weight 6y 25.5 kg (88%), OFC 6y 51.3 cm (64%); mild motor delay (mainly gros motor skills); slight speech-delay, is improving; no intellectual disability (IQ 104); no behavioral anomalies; no hypotonia; conductive hearing loss (left ear), hearing aid; hypermetropia normal; atrial septal defect secundum, bicuspid aortic valve, mild aortic regurgitation, slight pulmonary stenosis; no urogenital anomalies; no skeletal anomalies; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies - CHD4 1 1 Johan den Dunnen
00460300 Pat23 PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 99%, weight 88%, OFC 97%; motor delay; speech delay; borderline intellectual disability (IQ 80); autism; mild hypotonia; MRI brain normal nonspecific T2 hyperintense focus, otherwise normal; no hearing loss; corrective lenses; ECG normal; no urogenital anomalies; heel cord tightness, intermittent lower extremity pain and fatigue, frequent falls and reduced stamina; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies - CHD4 1 1 Johan den Dunnen
00460301 Pat29 PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 8y 143 cm (SD +2.5), weight 10y 62 kg (SD +3.3), OFC 10y 58 cm (SD +3.6); 2y4m-motor delay; speech delay; moderate intellectual disability; no behavioral anomalies; generalized epilepsy; MRI brain normal; no hearing loss; normal vision; ECG normal; micropenis; no skeletal anomalies; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies - CHD4 1 1 Johan den Dunnen
00460302 Pat30 PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 17y 170 cm (34%); motor delay; speech delay; mild intellectual disability (IQ 70); autism, attention-deficit/hyperactivity disorder, anxiet, depression; no hypotonia; no hearing loss; normal vision; no urogenital anomalies; lordosis lumbosacral. Kyphoscoliosis with scoliosis; no dental anomalies, no palatal anomalies; Constipation with encopresis - CHD4 1 1 Johan den Dunnen
00460303 Pat24 PubMed: Karimi 2025 - F - - - - - - - SIHIWES height 5.5y 112cm (60%), weight 5.5y 21kg (70%), OFC 5.5y 55cm (+3.1SD); motor delay, 2y6m-walk; speech delay, 3y-first words; mild intellectual disability; autism; no hypotonia; ECG normal; no urogenital anomalies; no skeletal anomalies; no dental anomalies, no palatal anomalies; occasional consiptation - CHD4 2 1 Johan den Dunnen
00460304 Pat11;Pat10 PubMed: Weiss 2020, PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 10y 137 cm (40%), OFC 10y 49.7 cm (SD -2.4); motor delay; speech delay; moderate intellectual disability; no behavioral anomalies; no hypotonia; MRI brain dysmorphic skull, microcephaly, otherwise normal; hearing within normal limits, except for mild-moderate dip at 6 and 8kHz; normal vision; atrial septal defect, pulmonary stenosis; Undescended testis; hypothyroidism, type 1 diabetes; no skeletal anomalies; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies - CHD4 1 1 Johan den Dunnen
00460305 Pat31 PubMed: Karimi 2025 - F - - - - - - - SIHIWES height 6 y and 10 m 113.4cm (11%), weight 6 y and 10 m 15.7kg (SD -2.4), OFC 6 y and 10 m 47.5 cm (-3 SD); motor delay, 2y-walk; speech delay, 15m-concerns about speech; intellectual disability; no behavioral anomalies; 3y6m-seizures, generalised, now 3y seizure free with treatment, mild central hypotonia; MRI brain mild cerebellar atrophy with prominence of cerebellar folia and fourth ventricle; no hearing loss; normal vision; ECG normal; no urogenital anomalies; congenital hypothyroidism; significant forefoot adductus bilat; no dental anomalies, no palatal anomalies; NG feeding for a few weeks due to prematurity; intrauterine growth restriction, oligohdramnios, late prematurity - CHD4 1 1 Johan den Dunnen
00460306 Pat11 PubMed: Karimi 2025 - F - - - - - - - SIHIWES OFC 0.35 SD; motor delay; speech delay; no intellectual disability; no behavioral anomalies; no hypotonia; MRI brain 18m-normal; unilateral sensorineural hearing loss; Small esotropia and mild amblyopia, slightly hyperopic, central cupping optic nerves; ECG normal; no urogenital anomalies; growth of pubic hair, no breast development, no other signs of early puberty; no skeletal anomalies; no dental anomalies, no palatal anomalies; constipation; bilateral preauricular skin defects due to focal dermal dysplasias type 4 - CHD4 1 1 Johan den Dunnen
00460307 Pat32 PubMed: Karimi 2025 - M - - - - - - - SIHIWES regular growth on the median, normal weight, OFC normal; motor delay, 1y10m-walk; speech delay, 2y2m-talks; no behavioral anomalies; hypotonia; MRI brain normal thinned corpus callosum, slightly thin optic tracts and a small pituitary gland; normal vision; fetal heart rhythm anomaly, no current rhythm disorder; no urogenital anomalies; no skeletal anomalies; no dental anomalies, no palatal anomalies; feeding problems; fetal heart rhythm anomaly; myofunctional feeding disorder related to mouth breathing and low orofacial muscle tone - CHD4 1 1 Johan den Dunnen
00460308 Pat13;Pat2 PubMed: Weiss 2020, PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 30y 185cm (88%), weight 30y 68.5 kg (47%), OFC 30y 57 cm (91%); motor delay, 1y6m-walk; speech delay; mild intellectual disability; no behavioral anomalies; hypotonia; MRI brain ventricular dilatation, Arnold-Chiari type 1; sensorineural hearing loss; myopia; mitral valve prolapse; no urogenital anomalies; scoliosis, pes cavus; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies - CHD4 1 1 Johan den Dunnen
00460309 Pat33 PubMed: Karimi 2025 - F - - - - - - - SIHIWES height 13y 1.35 cm (-3.2 SD), weight 13y 32 kg (-2SD), OFC 13y 51.5cm (5%); motor delay, 2y6m-walk; speech delay, 4y-talks (today speech is normal); no intellectual disability; no behavioral anomalies; no hypotonia; MRI brain Chiari malformation type 1, hyperdensity of foramen magnum; astigmatism, hypermetropia, s/p 2y-strabismus corrective surgery; aortic coarctation, S/P 4y-surgical repair; small kidneys and recurrent UTI; bone age 2y late, delayed puberty; no skeletal anomalies; Severe dental cavities, abnormal dentin, abnormal teeth location, dental crowding; feeding dificulties and slow weight gain in infancy. Fatty pancreas per US and rectal bleeding of unknown origin; spontaneous hematomas and platelets dysfunction of unknown cause - CHD4 1 1 Johan den Dunnen
00460310 Pat34 PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 2y 86 cm (36%), weight 2y 17.6 kg (SD +3.1), OFC 2y 51 cm (95%); motor delay, 1y-crawl, 16m-pull to stand, 21m-walk, 2y-not running, delayed fine motor skills; speech delay, 2y-babbles and noises, no words; no behavioral anomalies; hypotonia; MRI brain normal; bilateral moderate/severe conductive and sensorineural hearing loss; Right sided Horner syndrome; ECG normal; Undescended testes, micropenis; testosterone treatment; Small hands and feet, tapering fingers; no dental anomalies, no palatal anomalies; feeding problems; Tongue tie repaired; feeding issues -poor swallowing with choking, eats mashed foods; hyperphagia and reduced satiety; 9m-persistent wet cough, multiple courses of abx - CHD4 1 1 Johan den Dunnen
00460311 Pat35 PubMed: Karimi 2025 - F - - - - - - - SIHIWES height 4 y 7 m 101 cm (22%), weight 4 y 7 m 33.8 kg (SD +5.2), macrocephaly; motor delay; speech delay; intellectual disability; no behavioral anomalies; hydrocephalus (s/p ventriculoperitoneal shunt placement), syrinx, hypotonia; non-ambulatory; MRI brain shunted hydrocephalus, +syrinx (C3-T9), stable ventricles; no hearing loss; Optic atrophy; patent ductus arteriosus s/p ligation; no urogenital anomalies; no adrenal insufficiency or hypogonadism; no skeletal anomalies; no dental anomalies, no palatal anomalies; Gut malrotation s/p Ladd procedure; - CHD4 1 1 Johan den Dunnen
00460312 Pat26 PubMed: Karimi 2025 - M - - - - - - - SIHIWES motor delay; speech delay; intellectual disability; autism; no hypotonia; MRI brain cerebral atrophy more pronounced frontal lobes, discrete atrophy hippocampi, mild/moderate dilatation ventricles, with narrowing cerebral aqueduct upper ends; normal vision; ECG normal; no skeletal anomalies; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies; sleep problems - CHD4 1 1 Johan den Dunnen
00460313 Pat36 PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 15y 160.4 cm (13%), weight 15y 70.8 kg (85%), OFC 15y 56.5 cm (86%); motor delay, 1y10m-walk; speech delay, 6y-1st word; intellectual disability; autism. attention-deficit/hyperactivity disorder. Emotional and Sensory sensitivity. High pain tolerance.; Mild left hemiparesis, of undetermined cause. Possibility of stroke.; MRI brain 1y-normal; no hearing loss; strabismus, astigmatism, optic nerves small, not hypoplastic; Abbreviations: NMD (nonsense mediated mRNA decay), ID - intellectual disability; sex - F/M - female / male; atrial septal defect - atrial septal defect; atrial septal defect II - atrial septal defect secundum; SD - standard deviation; HC - head circumference; W - weight; H - height; NA - not applicable; UTI - urinary tract infection; patent ductus arteriosus - patent ductus arteriosus; ventricular septal defect -; total anomalous pulmonary venous return - Total anomalous pulmonary venous return; aberrant right subclavian artery - Aberrant Right Subclavian Artery; obstructive sleep apnea - obstructive sleep apnea; GH - growth hormone; ADHD - r; MRI - magnetic resonance imaging; CSF - cerebrospinal fluid. ventriculoperitoneal shunt - ventriculoperitoneal shunt; ECG - electrocardiogram; patent foramen ovale - patent foramen ovale; IQ - intelligence quotient; aortic regurgitation - aortic regurgitation; PS - pulmonary stenosis; S/P - status post; CT - Computed Tomography; ADD -; Y - years; tonsillectomy and adenoidectomy -tonsillectomy and adenoidectomy; focal dermal dysplasias - focal dermal dysplasias; IUGR - intrauterine growth retardation; GERD -; respiratory distress syndrome - respiratory distress syndrome; retinopathy of prematurity - Retinopathy of Prematurity; SIHIWES - Sifrim–Hitz–Weiss syndrome; Undescended testis, s/p surgical correction.; short stature, growth hormone deficiency, hypogonadism, per parental report that was normalized after growth hormone treatment; scoliosis, kyphoscoliosis. s/p surgical correction.; dental - single central incisor (normal adult teeth). Prone to get cavities.; no gastrointestinal anomalies - CHD4 1 1 Johan den Dunnen
00460314 Pat18;Pat4 PubMed: Weiss 2020, PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 6y 99 cm (SD -3.2), weight 6y 14.6 kg (SD -2.7); motor delay; speech delay; intellectual disability; no behavioral anomalies; hypotonia; MRI brain normal thin corpus callosum; no hearing loss; strabismus, hypermetropia; multiple muscular ventricular septal defect and two atrial septal defect; Undescended testis; no skeletal anomalies; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies - CHD4 1 1 Johan den Dunnen
00460315 Pat37 PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 31y 177.5 cm (55%) , weight 31y 206 kg (SD +8.5), OFC 31y 62.5 cm (SD +5.1); motor delay, 2y-walk, delayed fine motor skills; speech delay; mild-moderate intellectual disability; no behavioral anomalies; hypotonia; bilateral mild conductive hearing loss; normal vision; micropenis; Low testosterone, normal LH/FSH/prolactin; Small hands and feet; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies; Severe obstructive sleep apnea (BIPAP/Oxygen); tonsillectomy and adenoidectomy in childhood; Type 2 diabetes; Hypertension - CHD4 1 1 Johan den Dunnen
00460316 Pat5 PubMed: Karimi 2025 - F - - - - - - - SIHIWES height 22y 157cm (17%), weight 22y 70 kg (78%), OFC 22y 58cm (SD +3.3); motor delay; speech delay; mild intellectual disability; no behavioral anomalies; no hypotonia; MRI brain normal; conductive and sensorineural deafness (bilateral), needing hearing aids; strabismus needing surgery; atrial septal defect and anomalous pulomary venous return; no urogenital anomalies; no skeletal anomalies; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies - CHD4 1 1 Johan den Dunnen
00460317 Pat7 PubMed: Karimi 2025 - F - - - - - - - SIHIWES height 17y 150 cm (3%), boneage similar as chronological age, weight 17y 50 kg (24%), OFC 17y 51.5 cm (SD -2.6); motor delay, 3y-walki; speech delay, 3-4y-first words; moderate intellectual disability (IQ 50); no behavioral anomalies; no hypotonia; MRI brain boradened extracerebral space around vermis; no hearing loss; excavation of papil in right retina (atypic coloboma?), some tortuosity venes; Heterotaxia, right isomerism, total anomalous pulmonary venous return, ventricular septal defect, pulmonary atresia and hypoplastic pulmonary root; no urogenital anomalies; Late puberty and relatively low bone mineral density (Z score -2.1); normogonadotrophic oligomenorrhea; cubiti valgi; hands: Fusion os hamatum with os capitatum; valgus position of knees for which surgical correction was performed; Some caries, narrow palate; no gastrointestinal anomalies - CHD4 1 1 Johan den Dunnen
00460318 Pat19;Pat8 PubMed: Weiss 2020, PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 10y 143 cm (74%), weight 10y 56 kg (SD +2.64), OFC 10y 56 cm (SD +2.2); motor delay, 1y8m-walk; speech delay, 2y6m-first words; mild-moderate intellectual disability; no behavioral anomalies; congenital stroke, moyamoya; MRI brain enlarged lateral ventricles, moyamoya; conuctive hearing loss; normal vision; ECG normal; Undescended testes, micropenis; Hypogonadotrophic hypogonadism; Advanced bone age by 2-3 years; Bifid uvula; no gastrointestinal anomalies; aneuresis, Hemoglobin-F 4.3% - CHD4 1 1 Johan den Dunnen
00460319 Pat9 PubMed: Karimi 2025 - F - - - - - - - SIHIWES height 17.5y 147 cm (SD -2.4), weight 17.5y 61 kg (65%), OFC 17.5y 58 cm (SD +3.3); motor delay, 2y-walk; speech delay, 3y-talks; mild intellectual disability; no behavioral anomalies; mild hypotonia, shunt placement and decompression; MRI brain Chiari malformation, hydrocephalus; no hearing loss (VT at childhood due to conductive hearing loss); normal vision; aberrant right subclavian artery with pressure on esophagus, small patent ductus arteriosus, spontaneous closure.; no urogenital anomalies; primary amenorrhea; scoliosis (bracing treatment), mild genu valgumbil, leg length discrepance 1 cm; no dental anomalies, no palatal anomalies; aberrant right subclavian artery with pressure on esophagus; aspiration pneumonia due to aberrant right subclavian artery; obstructive sleep apnea needing BPAP; s/p tonsillectomy and adenoidectomy twice; Vocal cord paralysis; - CHD4 1 1 Johan den Dunnen
00460320 Pat38 PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 14y 159 cm (28%), weight 14y 80 kg (SD +2.1), OFC 14y 59 cm (SD +2.9); motor delay, 1.7y-walk; speech delay; mild intellectual disability; no behavioral anomalies; 1st year hypotonia; MRI brain Chiari type 1 with moderate-severe ventriculomegaly and platybasia, vestibular acqueduct dilatation bilateray; bilateral neurosensorial hearing loss; normal vision; ECG normal; Undescended testis; no skeletal anomalies; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies - CHD4 1 1 Johan den Dunnen
00460321 Pat39 PubMed: Karimi 2025 - M - - - - - - - SIHIWES weight 4.8y 19.1 kg (76%), OFC 4.8y 53.5 cm (SD +2); motor delay; speech delay; no behavioral anomalies; hypotonia; MRI brain normal pineal cyst which remained unchanged, otherwise normal; no hearing loss; left optic nerve hypoplasia; no urogenital anomalies; no skeletal anomalies; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies - CHD4 1 1 Johan den Dunnen
00460322 Pat13 PubMed: Karimi 2025 - F - - - - - - - SIHIWES height 11y 154cm (91%), weight 11y 59.2kg (97%), OFC 11y 58.5cm (SD +4.3); motor delay, 14m-crawl, 2y9m-first steps, dyspraxia; speech delay, 1y6m-2 words; no intellectual disability; attension deficit disorder (on Concerta); hypotonia; MRI brain Chiari malformation type 1, moderate ventriculomegaly, enlargement of subarachnoid spaces; bilateral sensorineural deafness requiring hearing aids.; Amblyopia, ptosis, astigmatism, strabismus.; pulmonary stenosis, perimembranous ventricular septal defect; small kidneys for age. Renal cyst later reported by parents.; 12m-normal endocrine evaluation; Pes planovagus, short 3rd toe bilaterally, genu valgum.; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies - CHD4 1 1 Johan den Dunnen
00460323 Pat14 PubMed: Karimi 2025 - F - - - - - - - SIHIWES height 27y 162.3 cm (44%), weight 27y 60 kg (57%), OFC 27y 56 cm (94%); motor delay, 12m-sit; speech delay; mild intellectual disability; no behavioral anomalies; inital hypotonia; CT head bilateral ventriculomegaly with extra axial fluid; no hearing loss; Right eye ptosis and hypertelorism, no visual concerns; bicuspid aortic valve, aortic stenosis, aortic insufficiency, left ventricular hypertrophy; renal US not performed; 15y-delayed menstruation, very scant periods; short heel cords requiring leg braces, tapered fingers, pes planus; slightly high arched palate with dental crowding; Gut malrotation and repaired abdominal hernia, esophageal strictures.; clinically diagnosed with Noonan syndrome many years ago; hyper-nasal voice - CHD4 1 1 Johan den Dunnen
00460324 Pat16 PubMed: Karimi 2025 - F - - - - - - - SIHIWES In the 7th percentile, weight 92nd percentile, macrocephaly (resolved) OFC 58th percentile; upper extremity hypertonia; esotropia; patent foramen ovale; metopic ridging, overlapping toes; submucosal cleft palate; umbilical hernia; Prenatal multi substances exposure; sickle cell trait; inverted nipples - CHD4 1 1 Johan den Dunnen
00460325 Pat17 PubMed: Karimi 2025 - M - - - - - - - SIHIWES motor delay; speech delay; intellectual disability; hyperactivity; ECG normal; Undescended testis; scoliosis - CHD4, SOX4 2 1 Johan den Dunnen
00460326 Pat18 PubMed: Karimi 2025 - M - - - - - - - SIHIWES no motor delay; speech delay; mild intellectual disability (IQ 61); no behavioral anomalies; no hearing loss; - CHD4 1 1 Johan den Dunnen
00460327 Pat19 PubMed: Karimi 2025 - M - - - - - - - SIHIWES height 3 y 8 m 89.5 cm (SD -2.6), weight 3 y 8 m 13.3 kg (7%), OFC 3 y 8 m 52 cm (90%); motor delay, 1y-crawl, 2y-walk, 3y8m-cannot jump, palmar grasp of objects, hand feeds; speech delay, 3y8m-short phrases/sentences, clarity issues; meltdowns, screaming, aggression.; epilepsy; MRI brain normal ventriculomegaly, hypoplastic corpus callosum, absent septum pellucidum, mega cisterna magna, absent posterior pituitary, bright spot but normal optic nerves; no hearing loss; high myopia, astigmatism, LT squint; ECG normal; normal IGF1; LT 3/4 finger skin syndactyly; no dental anomalies, no palatal anomalies; no gastrointestinal anomalies; extreme-prematurity (23gw+2); respiratory distress syndrome, home oxygen; retinopathy of prematurity; inguinal hernia bil - (extreme prematurity) - CHD4 1 1 Johan den Dunnen
00460328 Pat28 PubMed: Karimi 2025 - F - - - - - - - SIHIWES height 9y 145 cm (97%), weight 9y 58 kg (SD +3.6); motor delay; speech delay; intellectual disability; episodes of irritability/screaming, episodes of tiredness, staring, episodes of aggressive/self-injurious behavior; MRI brain normal normal 2021, MRI brain 2012 demonstrated prominent anterior CSF spaces; atrial septal defect; hypoglycemia, mild elevation of lactic acid; joint pain; feeding difficulties and poor weight gain in early life but now overweight; episignature testing in parents mother positive for SIHIWES - CHD4 2 1 Johan den Dunnen
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