FaCD Online Syndrome Fact Sheet

Last updated: 26 May 2009

Name: SC Phocomelia syndrome

Synonym: SC-Pseudothalidomide s., incl.: Roberts s.

Mode of Inheritance: AR

Genes

ESCO2, mapped to 8p21.1

Tumor features

cutaneous hemangioma

Tumor features (possible)

cavernous hemangioma
melanoma, cutaneous
rhabdomyosarcoma

Non-tumor features

cleft lip
cleft palate
corneal opacities
developmental delay/mental deficiency/mental retardation
growth deficieny
hypertelorism
hypoplastic nasal alae
joint contractures
microcephaly
micrognathia
nasal bridge, broad
premature separation of centromeres
reduction defect of upper limbs
reduction defects of lower limbs
syndactyly of fingers

Comment

This disorder is characterized by pre/postnatal growth retardation, nearly symmetrical reduction defects of the limbs, hemangiomas, craniofacial malformations, mental deficiency in some of the cases, and premature separation of chromosome centromeres. There is extensive clinical overlap with Roberts syndrome which is to be considered an identical or at least allelic disorder[1].
A few tumors have been observed in patients with the syndrome: melanoma[2], rhabodomyosarcoma[3] and oculomotor nerve cavernous hemangioma[4].

References

[1] Schüle B, Oviedo A, Johnston K, Pai S, Francke U. Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation. American journal of human genetics 2005; 77(6):1117-28.
[2] Parry DM, Mulvihill JJ, Tsai SE, Kaiser-Kupfer MI, Cowan JM. SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma. Am J Med Genet 1986; 24(4):653-672.
[3] Wenger SL, Blatt J, Steele MW, Lloyd DA, Bellinger M, Phebus CK, Horn M, Jaffe R. Rhabdomyosarcoma in Roberts syndrome. Cancer genetics and cytogenetics 1988; 31(2):285-9.
[4] Ogilvy CS, Pakzaban P, Lee JM. Oculomotor nerve cavernous angioma in a patient with Roberts syndrome. Surgical neurology 1993; 40(1):39-42.