Synonym(s): - Pseudothalidomide syndrome - Roberts-SC phocomelia syndrome - SC phocomelia - SC pseudothalidomide syndrome
Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 2 OMIM references - See 1 MeSH reference: C535687
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
ESCO2	Q56NI9	609353

- 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)

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

- 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