ODCs

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Potocki-Shaffer syndrome

1 OMIM reference -
3 associated genes
39 connected diseases
3 signs/symptoms

Disease	Type of connection
Multiple osteochondromas
Frontonasal dysplasia with alopecia and genital anomaly
Isolated scaphocephaly
Parietal foramina
Chondrosarcoma
Langer-Giedion syndrome
Hyperinsulinism due to HNF4A deficiency
Leber congenital amaurosis
MODY syndrome
Pigmented paravenous retinochoroidal atrophy
Retinitis pigmentosa
Williams syndrome
46,XY partial gonadal dysgenesis
8p23.1 microdeletion syndrome
Anophthalmia / microphthalmia - esophageal atresia
Atrial septal defect, ostium secundum type
Colobomatous microphthalmia
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Complete atrioventricular canal - ventricle hypoplasia
Familial atrial fibrillation
Familial prostate cancer
Isolated anophthalmia - microphthalmia
Kallmann syndrome
Multiple endocrine neoplasia type 1
Neurologic Waardenburg-Shah syndrome
Partial atrioventricular canal
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Recurrent infection due to specific granule deficiency
Roberts syndrome
Septo-optic dysplasia
Single ventricular septal defect
Tetralogy of Fallot
Waardenburg syndrome type 2
Waardenburg-Shah syndrome
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

Synonym(s): - 11p11.2 deletion - Proximal 11p deletion syndrome

Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: unknown		External references: 1 OMIM reference - 1 MeSH reference: C538356

Very frequent

- Exostoses
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Poorly ossified skull / calvarium