Disease #00015

Official abbreviation FLHS
Name Floating-Harbor syndrome (FLHS)
OMIM ID 136140
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 15
Phenotype entries for this disease 15
Associated with 1 gene SRCAP
Associated tissues -
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Individuals

15 entries on 1 page. Showing entries 1 - 15.
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00000205 - Le Goff 2012 - - - - - - - - - FLHS - SRCAP SRCAP 6 1 Carine Le Goff
00001566 - PubMed: Hood 2012, PubMed: White 2010 - M - - France - 0 - - FLHS Head circumference at 8y 54cm /+1 SD; Weight at 8y of 25.5kg/0 SD; Height at 8y of 123cm/-0.8 SD; Prepubertal height -0.8 SD; Bone age of 2.5y at chronological age of 7.5y; Triangular face; Distinctive nose; Low-hanging columella; Thin upper vermilion border; Wide mouth; Low-set ear; Hypospadias; Celiac disease; Borderline normal intellectual development; Delayed development of expressive language; Mainstream education with support; Normal microarray (44K) findings - SRCAP 1 1 Dennis E. Bulman
00001578 - PubMed: Hood 2012, PubMed: White 2010 - F - - mixed European - 0 - - FLHS head circumference at 12y of 0SD; Height at 12y of 133.5 cm/-2.2SD; Age at puberty of 12y; Bone age of 2y6m at chronological age of 5y7m; Bone age of 11y at chronological age of 9y9m; Triangular face; Distinctive nose; Low-hanging columella; Thin upper vermilion border; Wide mouth; Low-set ears; Broad thumbs; Broad fingertips; Hydronephrosis; Nephrocalcinosis; Recurrent otitis media; Normal intellectual development; Moderate delayed development of expressive language; Mainstream education with support; Normal microarry findings (Affymetrix 2.7M) - SRCAP 1 1 Dennis E. Bulman
00001579 - PubMed: Hood 2012 - M - - mixed European - 0 - - FLHS head circumference at 12y of 53cm/-1SD; Height at 12y of 134.8cm/-2.0SD; Perputertal height -2.0SD; Bone age of 8y at chronological age of 11y; Triangular face; Distinctive nose; Low-hanging columella; Thin uppper vermilion border; Wide mouth; Broad fingertips; Clinodactyly (radial deviation fifth distal phalanx); Dislocated radial head; 11 rib pairs; Maxillary retrusion; Underbite; Mild aortic coarctation; Borderline normal intellectual development; Moderate delayed development of expressive language; Normal microarray findings (180k Agilent) - SRCAP 1 1 Dennis E. Bulman
00001580 - PubMed: Hood 2012 - M - - Finnish - 0 - - FLHS bone age of 2y at chronological age of 4y8m; Bone age of 9y at chronological age of 10y8m; Triangular face; Distinctive nose; Low-hanging columella; Thin upper vermilion border; Wide mouth; Low-set ears; Broad thumbs; Broad fingertips; Clinodactyly; Caries; Microdontia; Cryptorchidism; Hyperopia; Conductive hearing loss; Borderline normal intellectual development; Impaired development of expressive language; Attend special school; Normal microarray findings (105K) - SRCAP 1 1 Dennis E. Bulman
00001581 - PubMed: Hood 2012 - M - - German and Mexican - 0 - - FLHS OFC 4y3m of 48.5cm/-1.7SD; Weight at 4y3m of 11kg/-3.4SD; Height at 4y3m of 86.5cm/-4.3SD; Prepubertal height -4.4SD; Bone age of 1y at chronological age of 2y11m; Triangular face; Distinctive nose; Low-hanging columella; borderline wide mouth; Low-set ears; Broad thumbs; Clinodactyly; Short fifth metacarpal; Hyperopia; Normal intellectual development; Borderline normal development of expressive language (bilingual); mainstream education; 7q31dup (paternally inherited); - SRCAP 1 1 Dennis E. Bulman
00001598 - PubMed: Hood 2012 - M - - Brazil - 0 - - FLHS OFC 04y of 48cm/-2SD; Height at 4y of 89.9cm/-3.2SD; Prepubertal height -3.2SD; Bone age of 1y at Chronological age of 3y; Distinctive nose; Low-hanging columella; Wide mouth; Broad thumbs; Brachydactyly of fifth toes; Atrial septal defect; Hyperopia; unilateral renal pelviectasis; Moderate delayed intellectual development; Moderate delayed devolopment of expressive language; Xp22.31dup (maternally inherited) SRCAP SRCAP 1 1 Dennis E. Bulman
00001599 - PubMed: Hood 2012 - M - - German - 0 - - FLHS OFC 4y4m of 50cm/+0.7SD; Height at 4y4m of 90cm/-3.6SD; Prepubertal height -3.6SD; Bone age of 3y at chronological age of 4y; Distinctive nose; Low-hanging columella; Thin uppervermilion border; Low-set ears; Clavicular hypoplasia; mesocardia; Persistent left superior vena cava; conductive hearing loss; borderline normal intellectual development; moderate delayed development of expressive language; mainstream education with support SRCAP SRCAP 1 1 Dennis E. Bulman
00001600 - PubMed: Hood 2012 - F - - Caucasian - 0 - - FLHS OFC 10y5m of 49.5cm/-1SD; Height circumference at 10y5m of 118.5cm/-3.5SD; Prepubertal height -3.5SD; Bone age of 1y at chronological age of 5y; Triangular face; Distinctive nose; Low-hanging columella; Thin upper vermilion; Wide mouth; Low-set ears; Clinodactyly; Kyphoscoliosis; Caries; Delayed loos of primary teeth; Constipation; Mild intellectual disability; Severe delayed development of expressive language; Special education SRCAP SRCAP 1 1 Dennis E. Bulman
00001611 - PubMed: Hood 2012, PubMed: White 2010 - M - - Caucasian - 0 - - FLHS OFC 11y of 50.5cm/-2SD; Height at 11y of 116.8cm/-3.9SD; Pubertal age of 14y at chronological age of 11y; Bone age of 3-6m at chronological age of 1y; Triangular face; Distinctive nose; Low-hanging columella; Thin upper vermilion border; Wide mouth; Low-set ears; Broad finger tips; Clinodactyly; Dysplastic hips; Bilateral inguinal hernia; Cryptorchidism; Velopharyngeal imcompetence; Hearing loss; Moderately severe learning disability; Moderate delayed development of expressive language; special education SRCAP SRCAP 1 1 Dennis E. Bulman
00001612 - PubMed: Hood 2012 - M - - Brazil - 0 - - FLHS OFC 19y of 52cm/-2.5SD; Height at 19y of 145.5cm/-4.1SD; Bone age of 2y at chronological age of 7y; Triangular face; Distinctive nose; Low-hanging columella; Wide mouth; 11 rib pairs; Ivory epiphyses in distal phalanges; posterior urethral valves; Umbilical hernia; Significant intellectual disability; Can speak some words; Attending special school SRCAP SRCAP 1 1 Dennis E. Bulman
00001613 - PubMed: Hood 2012 - M - - Brazil - 0 - - FLHS OFC 19y7m of 56cm/0SD; Height at 19y7m of 148cm/-3.8SD; Bone age of 3y at chronological age of 7y; Triangular face; Distinctive nose; Low-hanging columella; Wide mouth; Broad thumbs; Broad fingertips; Brachydactyly; Clinodactyly; Short middle phalanges of second and fifth fingers; Strabismus; Intellectual disability; Moderate delayed development of expressive language; Attending special school; Normal 22q11 SRCAP SRCAP 1 1 Dennis E. Bulman
00001614 - PubMed: Hood 2012 - M - - Chinese - 0 - - FLHS age at puberty of 10y; Prepubertal height -3SD; Bone age of 10y 6m at chronological age of 11y4m; Triangular face; Distinctive nose; Low-hanging columella; Thin upper vermilion border; Wide mouth; Low-set ears; Broad thumbs; Broad fingertips; Clinodactyly; Short first metacarpal; Caries; Microdontia; Underbite; Bilateral epididymal cysts; Left varicocele; Borderline normal intellectual development; Moderate delayed development of expressive language; Special education; Normal microarray findings (Agilent 6.1) SRCAP SRCAP 1 1 Dennis E. Bulman
00001615 - PubMed: Hood 2012 - M - - Polish - 0 - - FLHS preputertal height -2.5SD; Bone age of 8m at chronological 2y8m; Triangular face; Distinctive nose; Low-hanging columella; Thin upper vermilion broder; Wide mouth; Low-set ears; Broad thumbs; Broad fingertips; Clinodactyly; Short fifth metacarpal; Unilateral cleft lip; Cryotorchidism; Mild intellectual disability; Moderate delayed development of expressive language; Mainstream education with support; Normal microarry finings (Agilent 244K) SRCAP SRCAP 1 1 Dennis E. Bulman
00001630 - - - M no - German - 0 - - FLHS glandular hypospadias at birth; Walking at 24m; Speech develomental delay; Height at 8y9m of 119cm/<3rd centile; Weight at 8y9m of 26.8kg/25th centile; OFC at 8y9m of 53cm/75th centile; Metopic ridge; Pits of ear lobules; Typical nose (broad base, prominent nasal bridge, hypoplastic alae nasi, bulbous tip, low-hanging columella); Thin upper lip; Bilateral fifth finger clinodactyly; generalized hypertrichosis; atopic dermatitis; Attend special school; temperament and behavior diffiiculties with (auto)arressive outbursts; Brain MRI, sonography of the abdomen, EEG, ophthalmologic examination and hearing tests are normal; Bone age of 5y3m at chronological age of 8y2m; SNP array(Affymetrix 6.0) normal SRCAP SRCAP 1 1 Dennis E. Bulman
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