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Potocki-Shaffer syndrome

1 OMIM reference -
3 associated genes
3 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Roberts syndrome

2 OMIM references -
1 associated gene
48 signs/symptoms

Potocki-Shaffer syndrome

Roberts syndrome

ALX4	(UniProt - OMIM)		ESCO2	(UniProt - OMIM)
EXT2	(UniProt - OMIM)
PHF21A	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PHF21A	(0.63)	ESCO2

Citations in the biomedical literature:

Potocki-Shaffer syndrome		Roberts syndrome
	Synonym(s): - 11p11.2 deletion - Proximal 11p deletion syndrome		Synonym(s): - Pseudothalidomide syndrome - Roberts-SC phocomelia syndrome - SC phocomelia - SC pseudothalidomide syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C538356		External references: 2 OMIM references - 1 MeSH reference: C535687


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability

Potocki-Shaffer syndrome		Roberts syndrome
	Very frequent - Exostoses - Poorly ossified skull / calvarium		Very frequent - Autosomal recessive inheritance - Bowed diaphysis / diaphyses / long bones - Brachycephaly / flat occiput - Clinodactyly of fifth finger - Flat cheek bones / malar hypoplasia - Hypertelorism - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Intrauterine growth retardation - Microcephaly - Phocomelia - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Short stature / dwarfism / nanism - Thin / hypoplastic ala nasi - Thumb hypoplasia / aplasia / absence - Upper limb transverse anomaly (excluding hand) Frequent - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Cataract / lens opacification - Cleft lip and palate - Clitoris / labia majora / labia minora / female external genitalia hypoplasia - Congenital cardiac anomaly / malformation / cardiopathy - Early death / lethality - Flat supraorbital ridge - Macropenis / megapenis / large penis - Micrognathia / retrognathia / micrognathism / retrognathism - Prematurity - Proptosis / exophthalmos - Radioulnar synostosis - Short hand / brachydactyly - Small / hypoplastic / adherent / absent ear lobe - Stillbirth / neonatal death - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Arthrogryposis - Blue sclerae - Carpal bones fusion / synostosis - Craniostenosis / craniosynostosis / sutural synostosis - Glaucoma - High vaulted / narrow palate - Multicystic kidney / renal dysplasia - Nystagmus - Patella absent / abnormal (excluding luxation) - Polyhydramnios - Short neck - Simian crease / transverse / unique palmar crease - Syndactyly of fingers / interdigital palm - Thrombocytopenia / thrombopenia - Wide space between 1st-2nd toes