All individuals with variants in gene AFF3

19 entries on 1 page. Showing entries 1 - 19.
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00248352 Pro1;Pat3 Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD severe developmental delay/intellectual disability; Generalized tonic-clonic seizures (onset at 5 years), nocturnal, treatment with Keppra and Micropakine; Limb hypertonia, spastic tetraparesis; normal vision, normal hearing; MRI brain enlargement of the ventricular system and peri-cerebral spaces, thin and irregular appearance of the corpus callosum; Stereotypic movements; microcephaly, plagiocephaly; Small nose, anteverted nares; normal philtrum; Wide mouth with square upper lip; Small teeth, gingival hypertrophy; Prognathism; synophrys, hypertrichosis; Hypertelorism, short neck; no mesomelic dysplasia; Bilateral elbow dislocation; Limited pronosupination, bilateral camptodactyly, edema of back-hands and -feet, bilateral simian creases, tapered fingers, dorsum pedis edema, small toes, hypoplasia of distal phalanges, ungual hypoplasia, neonatal arthrogryposis; Scoliosis; Bilateral coxa valga, dislocation of the hips; no horseshoe kidney; failure to thrive; Apnea; Bilateral cryptorchidism, bicuspid aortic valve 1 1 Johan den Dunnen
00248353 Pro2;Pat4 Journal: Voisin 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD severe developmental delay/intellectual disability; Multifocal epileptiform discharges in bilateral posterior quadrant, no clinical seizures.; Generalized hypotonia; Cortical visual impairment, hyperopic refractive error and small angle intermittent strabismus; MRI brain partial agenesis of the corpus callosum, forshortened and undersulcated frontal lobes, small cerebellar vermis with mega cisterna magna and wide sylvian fissures; no microcephaly; Prominent columella; normal philtrum; Wide mouth, downturned corners, thin upper lip; Small, widely spaced teeth, bruxism; normal chin; -; Full cheeks, mild facial asymmetry; mesomelic dysplasia lower limbs; Bilateral fibular agenesis, short and curved tibia, bilateral Syme amputations with resection of cartilaginous fibular anlage and bilateral tibial osteotomies for angular deformity correction, fitted with bilateral lower extremity prosthetics at 2 years 3 months.; Right single transverse and left bridged palmar crease, bilateral hypoplastic 4th metatarsals, absence of the 5th ray and phalanges of lateral toes, 4 splayed toes; 13 rib-bearing thoracic-type vertebrae and 5 lumbar type vertebrae, hypoplastic L1 with focal kyphosis; normal hips and pelvis; osteopenia; horseshoe kidney; gastroesophageal reflux disease, dysphagia, gastrostomy tube dependent, concerns for esophageal dysmotility ± abnormal gastric accommodation, abnormal gastric emptying with no evidence of small intestinal dysmotility; no failure to thrive; Multicompartmental respiratory disease (upper airway obstruction, lower airway obstruction, ineffective mucociliary clearance, restrictive lung disease, aspiration and pneumonia), moderate to severe mixed sleep apnea, severe laryngomalacia status post supraglottoplasty at 18 months, cough assist and inhaled steroid and bronchodilator and supplemental oxygen with sleep, tonsillectomy and adenoidectomy planned; History of bilateral vesicoureteral reflux, grade II 1 1 Johan den Dunnen
00248354 Pro3;Pat7 Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD severe developmental delay/intellectual disability; Generalized, tonic-clonic seizures (onset at 5 months), initially controlled with phenobarbital, developed drug-resistance, partially controlled with carbamazepine, clobazam, nitrazepam and phenobarbital; Axial hypotonia, peripheric hypertonia; normal vision, normal hearing; MRI brain pachygyria of frontal lobes, abnormal opercularization of insulae with thicker insular cortices, wide Sylvian fissures, cerebral atrophy, brainstem hypoplasia, increased volume of the trigones and occipital horns of the lateral ventricles; microcephaly; Large nose with bulbous nasal tip and low hanging columella; short philtrum; Wide mouth with square upper lip; teeth and gum abnormalities; Micrognathia; synophrys, hypertrichosis; mesomelic dysplasia 4 limbs; arms and legs Madelung deformity, slender limb bones, fibular hypoplasia/agenesis; Hypoplastic talipes, fusion of tarsal bones; Severe scoliosis, C2-C3 vertebral fusion, L5-S1 vertebral cleft; normal hips and pelvis; osteopenia, osteoporosis; no horseshoe kidney; gastroesophageal reflux disease, constipation; failure to thrive; Neonatal respiratory distress, recurrent pneumonia, frequent hiccups improved with carbamazepine, respiratory arrest leading to death at 21 years 1 1 Johan den Dunnen
00248355 Pro4;Pat8 Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD severe developmental delay/intellectual disability; Generalized, tonic-clonic seizures; Limb hypertonia; Myopia, strabismus; no microcephaly; Large nose with bulbous nasal tip and low hanging columella; short philtrum; Wide mouth with square upper lip; teeth and gum abnormalities; Triangular chin; synophrys, hypertrichosis; mesomelic dysplasia 4 limbs; Short ulna and radius, radial head dislocation/subluxation, styloid process of ulna on radius, carpal coalition, hypoplastic femora, short and curved tibia with metaphyseal flaring, mid tibial dimples, deviated knees, hypoplastic and gracile fibula; Carpal coalition, small feet, hypoplastic left 5th, metatarsal synostosis; Scoliosis; Bilateral coxa valga with hypoplastic ilia, hip dislocation; osteopenia; horseshoe kidney; gastroesophageal reflux disease, constipation; failure to thrive; no respiratory problems; Menstrual cycle perturbations 1 1 Johan den Dunnen
00248356 Pro5;Pat9 Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 - F - - - - - - - NDD severe developmental delay/intellectual disability; Generalized, tonic-clonic seizures; Hypotonia; Strabismus; MRI brain cerebral atrophy with possible brainstem hypoplasia; microcephaly; Small nasal tip; normal philtrum; Wide mouth with square upper lip; Small, widely spaced teeth; normal chin; synophrys, hypertrichosis; mesomelic dysplasia 4 limbs; Short and thick ulna, slightly shortened radius with convex distal end bilaterally, dislocation of right radial head, short and curved tibia, extremely short rectangular fibula; Talus ossified in hindfoot, one ossified bone in midfoot (cuneiform), missing one lateral ray in left foot, 4th-5th right metatarsal synostosis; Bilateral cervical ribs; Coxa valga; no osteopenia; horseshoe kidney; Constipation, swallowing difficulties, percutaneous endoscopic gastrostomy; failure to thrive; Nightly desaturations treated with CPAP from 3 years of age 1 1 Johan den Dunnen
00248357 Pro6;Pat10 Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD severe developmental delay/intellectual disability; Complex partial with secondary generalization; Axial hypotonia, peripheric hypertonia; Central vision loss due to occipital impairment, central progressive hearing loss; MRI brain prominence of CSF spaces; brachycephaly, no microcephaly; Bulbous nasal tip, low hanging columella with low insertion; short smooth philtrum; Wide mouth with downturned corners, thick lower lip vermillion; teeth and gum abnormalities; Micrognathia; synophrys, hypertrichosis; Long palpebral fissures, low-set and posteriorly rotated large ears with a simple helix, facial asymmetry; mesomelic dysplasia 4 limbs; Short fibula, discoid meniscus, limited knee extension; Soft tissue syndactyly of fingers 3rd-4th, small feet, pes planus, 2nd toe overlapping hallux bilaterally; Scoliosis, incomplete coronal cleft of T9 and T12 vertebrae, low lying spinal cord, termination of conus medullaris at upper border of L3; Bilateral coxa valga; osteopenia; horseshoe kidney; gastroesophageal reflux disease, gastrojejunostomy tube dependent, chronic constipation, hiatal hernia, pancreatitis; failure to thrive; no respiratory problems 1 1 Johan den Dunnen
00248358 Pro7;Pat11 Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD severe developmental delay/intellectual disability; Generalized, tonic-clonic seizures; Hypotonia; normal vision, normal hearing; MRI brain cerebral atrophy; microcephaly; Large nose with bulbous nasal tip and low hanging columella; short philtrum; Prominent upper lip; no teeth and gum abnormalities; Mild micrognathia; synophrys, hypertrichosis; Long palpebral fissures; mesomelic dysplasia 4 limbs; Limited supination, radial head dislocation/subluxation, hypoplastic fibula; Limited supination, pes planus, broad toe tips; Pectus excavatum; Hip dislocation; osteopenia, osteoporosis; no horseshoe kidney; Constipation; failure to thrive; no respiratory problems 1 1 Johan den Dunnen
00248359 Pro8;Pat12 Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD severe developmental delay/intellectual disability; Generalized (onset at 3 years), tonic-clonic seizures, inefficient treatments but remission since 6 years 9 months; Hypotonia; Strabismus inconstant; MRI brain cerebral atrophy, pachygyria of frontal lobes; microcephaly; Large nose with bulbous nasal tip and low hanging columella; short philtrum; Wide mouth; Widely spaced teeth; Prognathism; synophrys, hypertrichosis; Long palpebral fissures, low set ears, mild facial asymmetry, gingival hyperplasia diabetes; mesomelic dysplasia 4 limbs; Short humerus, hypoplastic short fibula; Transverse palmar crease, limited pronosupination, proximal deviation of thumbs, small feet, absent calcanei, broad 1th toes, polydactyly, cutaneous process on the side of the 5th finger and cutaneous syndactyly 3th-6th toes on left foot, four metatarsals and partial syndactyly 3th-4th toes on right foot; Scoliosis, fusion 1th-2th ribs, sacral sinus; Coxa valga, hip dysplasia; no osteopenia; horseshoe kidney; Сonstipation, anal dystopia; failure to thrive; no respiratory problems; Popliteal pterygium 1 1 Johan den Dunnen
00248360 Pat13 Journal: Voisin 2019 - M - - - - - - - NDD see paper; … 1 1 Johan den Dunnen
00248361 Pat14 Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - NDD severe developmental delay/intellectual disability; Generalized, tonic-clonic seizures; Hypotonia; Strabismus; microcephaly; Ankyloglossia; teeth and gum abnormalities; mesomelic dysplasia lower limbs; Bowed radii, unilateral bowed ulna, shortened ulna, abnormal radial diaphysis, bowed and angulated tibias, hypoplastic fibula; Wide distal radial metaphyses, oligodactyly: 2 tarsal bones on each foot, absent/hypoplastic calcanei, 3 metatarsals, 3 associated phalanges, 1 phalanx not associated with a metatarsal bone; Scoliosis, cervical ribs, anterior superior vertebral notching, tethered cord; Coxa valga, unilateral hip dysplasia; osteopenia; horseshoe kidney; gastroesophageal reflux disease, constipation; failure to thrive; no respiratory problems 1 1 Johan den Dunnen
00248362 patient;Pat18 Journal: Steichen-Gersdorf 2008, Journal: Voisin 2019, Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents F - Germany - - - - - NDD severe developmental delay/intellectual disability; Myoclonic jerks, convulsions; MRI brain atrophy, ventriculomegaly; dolicocephaly, no microcephaly; Short palpebral fissures, low set ears, short neck; mesomelic dysplasia 4 limbs; arms and legs radial head dislocation/subluxation, slightly short radius and ulna, short and dysplastic triangular tibias, fibular agenesis; Small equinovalgus feet, oligodactyly: 4 toes on 1 foot, 5 on the other, abnormally spaced; Sacral sinus; horseshoe kidney; Colon malrotation; failure to thrive; Recurrent apnea, 4m-respiratory arrest leading to death 1 1 Johan den Dunnen
00372547 Pat1 Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD severe developmental delay/intellectual disability; no epilepsy; Hypotonia; normal vision, normal hearing; MRI brain Dandy-Walker; microcephaly; Bulbous nasal tip and prominent columella; normal philtrum; Open mouth; no teeth and gum abnormalities; Micrognathia; synophrys, hypertrichosis; Maxillary protrusion; no mesomelic dysplasia; arms and legs limited flexion (wrist), hyperextension (elbows); Bilateral pes valgus; horseshoe kidney; Constipation; failure to thrive; no respiratory problems 1 1 Johan den Dunnen
00372548 Pat2 Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD severe developmental delay/intellectual disability; no epilepsy; Tremors creating problems for fine motor skills; no microcephaly; Slightly snubbed nose; Wide mouth with thin lips; gastroesophageal reflux disease, frontal headaches often accompanied by gush vomiting with hyper salivation and ataxic aphasia; no failure to thrive; Sleep apnea; Neonatal hypoglycemia 1 1 Johan den Dunnen
00372549 Pat5 Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD severe developmental delay/intellectual disability; Generalized, tonic-clonic seizures (onset at 9 months, treatment-resistant); Hypotonia, dystonia; Nystagmus; MRI brain hypoplasia of the corpus callosum, brain atrophy; microcephaly; Large nose with bulbous nasal tip and low hanging columella; Smooth philtrum; Thin upper lip; Widely spaced teeth; -; no mesomelic dysplasia; Scoliosis; no osteopenia; horseshoe kidney; Constipation; failure to thrive; no respiratory problems 1 1 Johan den Dunnen
00372550 Pat6 Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD severe developmental delay/intellectual disability; Absences, myoclonic jerks; Limb hypertonia, spastic tetraparesis; normal vision, normal hearing; MRI brain widely open opercula of Sylvian fissures, prominent cisterna magna,pachygyria of posterior parietal lobes; no microcephaly; Low columella, bulbous nasal tip; short philtrum; Wide mouth, full lips; Widely spaced teeth; Mild micrognathia; synophrys, hypertrichosis; Long palpebral fissures; no mesomelic dysplasia; Contracture of knees and wrists; Post axial polydactyly with syndactyly of left foot, severe bilateral hind foot varus,short calcaneum.; Scoliosis treated surgical rods; Coxa valga; no horseshoe kidney; Constipation, gastrostomy fed; failure to thrive; Vesicoureteral reflux, weight at 9th centile 1 1 Johan den Dunnen
00372551 patient PubMed: Shimizu 2019 - F - Japan - - - - - NDD severe developmental delay/intellectual disability; no epilepsy; Cannot control her head; MRI brain normal; no microcephaly; mesomelic dysplasia 4 limbs; Short and bowed radii and ulna, thick ulnae, narrow radii, subluxed left radius, broad tibiae, mildly hypoplastic fibula; Syndactyly of the left 4th and 5th toes, hypoplastic left 4th metatarsal and right 5th metatarsal; 11 pairs of ribs, sacral dimple; normal hips and pelvis; no horseshoe kidney, hypoplastic kidneys; -; failure to thrive; no respiratory problems; Short stature 1 1 Johan den Dunnen
00372552 Pat13 Journal: Voisin 2021, Journal: Voisin 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD severe developmental delay/intellectual disability; no epilepsy; Normal; Conductive hearing loss (resolved), vision not yet formally assessed; MRI brain normal; Autism and ADHD; microcephaly; normal nose; short philtrum; Thin upper vermillion, mild ankyloglossia (snipped), high arched palate; Hypomineralisation; Micrognathia; synophrys, hypertrichosis; Slight metopic prominence; mild mesomelic dysplasia lower limbs; arms and legs mild lateral bowing of both radii, normal bone age; Very broad feet. Bilateral hind foot varus deformity, mild metatarsus adductus. misshaped and large talus, cuboid and calcaneum, mild shortening and Y shaped fusion of the left 4th and 5th metatarsals, hyperplastic/dysplastic toenails, hand Xrays normal; 6 lumbar vertebrae, 13 pairs of ribs, sacral dimple; normal hips and pelvis; no osteopenia; horseshoe kidney; Constipation, feeding difficulties due to floppy larynx and adenotonsillar hypertrophy, frequent obstruction; failure to thrive; Severe obstructive sleep apnea, adenotonsillectomy at 3 years; Short stature 1 1 Johan den Dunnen
00372553 Pat14 2-generation family, 1 affected, unaffected non-carrier parents {DOI:Voisin 2021:33961779}, {DOI:Voisin 2021:10.1016/j.ajhg.2021.04.001} F - - - - - - - NDD severe developmental delay/intellectual disability; Focal and generalized tonic-clonic seizures (onset at 6 years, treatment-resistant); Generalized hypotonia in the first years, in the second decade hypertonia of the legs; Convergent strabismus, myopia; MRI brain ventriculomegaly, colpocephaly, enlarged cisterna magna, pineal cyst; Frequent falls, progressive ataxia; no microcephaly; Large nose with bulbous nasal tip and low hanging columella; normal philtrum; Wide mouth with square upper lip; Widely spaced teeth; normal chin; synophrys, hypertrichosis; no mesomelic dysplasia; Short and broad feet, bilateral talipes calcaneus, short 1st metatarsal, tapered finger, brachydactyly; Sacral dimple; normal hips and pelvis; horseshoe kidney; Intermittent vomiting; no failure to thrive; Intermittent hyperventilation; Body height >97th percentile between 6 and 12 years. Onset of puberty 11 years. Obesity 1 1 Johan den Dunnen
00372554 Pat16 Journal: Voisin 2021, Journal: Voisin 2021 - M - - - - - - - NDD severe developmental delay/intellectual disability; Generalized and focal seizures (onset at 3 months, treatment resistant); Hypotonia; Strabismus; MRI brain borderline delayed myelination pattern, mild generalized prominence of the extra-axial CSF spaces; no microcephaly; Bulbous naval tip, anteverted nares; normal philtrum; normal mouth; no teeth and gum abnormalities; normal chin; abundant scalp hair; Large appearing ears; mesomelic dysplasia lower limbs; arms and legs radial heads hypoplastic and posteriorly subluxated, bilateral fibular hemimelia, long halluces; Overlapping fingers, Camptodactyly, 5th finger clinodactyly, hypoplastic flexion creases, single transverse palmar creases; Deep Sacral dimple; normal hips and pelvis; horseshoe kidney; no failure to thrive; no respiratory problems; Short stature, 2 small muscular ventricular septal defects, grade 1 vesicoureteral reflux 1 1 Johan den Dunnen
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