Preferred Label : Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Megarbane et al. (2006) reported a consanguineous Lebanese family in which 2 cousins
had severe scoliosis with multiple other skeletal anomalies and retinitis pigmentosa.
Both individuals had postnatal short stature, short neck, rhizomelic shortening of
the limbs, particularly the upper limbs. and strabismus. Radiographic findings included
short humeri, prominent deltoid tuberosities of the humeri, short and wide ribs and
clavicles, biconcave vertebral bodies of the thoracolumbar spine, and narrowed lumbar
canal. One patient had amelogenesis imperfecta. There was no bone age delay, and intelligence
was normal. Megarbane et al. (2006) distinguished the disorder in this family from
other syndromes with skeletal dysplasia and eye abnormalities. *FIELD* RF 1. Megarbane,
A.; Ghanem, I.; Waked, N.; Dagher, F.: A newly recognized autosomal recessive syndrome
with short stature and oculo-skeletal involvement. Am. J. Med. Genet. 140A: 1491-1496,
2006. *FIELD* CS Autosomal recessive;
Inheritance : Autosomal recessive;
Prefixed ID : 610319;
Origin ID : 610319;
UMLS CUI : C1853197;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
