Preferred Label : Ehlers-danlos syndrome, beasley-cohen type;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : Ehlers-danlos syndrome with mental retardation, deafness, and cataract;
Description : Beasley and Cohen (1979) described a family they considered to have a novel form of
presumably autosomal recessive EDS. Two of 7 sibs in a consanguineous Chinese family
were affected. The proband was a 25-year-old man with hyperextensible joints, bilateral
inguinal hernias, hyperelastic skin, chronically dislocated left hip, and 'lop' ears.
The sister of the proband had most of the same physical findings as her brother, including
narrow face, small eyes, and midface deficiency that differed from unaffected family
members. Audiogram revealed moderate hearing reduction at all frequencies. She had
apparent cataracts. Both sibs were mentally retarded. Easy bruisability, difficulty
with wound healing, prominent veins, pseudotumors, and elastosis perforans were not
present; scarring was minimal and sclerae were normal. Dermal collagen studies suggested
that levels of procollagen peptidase and lysyl hydroxylase were normal. *FIELD* RF
1. Beasley, R. P.; Cohen, M. M., Jr.: A new presumably autosomal recessive form of
the Ehlers-Danlos syndrome. Clin. Genet. 16: 19-24, 1979. *FIELD* CS Autosomal recessive;
Inheritance : Autosomal recessive;
Prefixed ID : 608763;
Origin ID : 608763;
UMLS CUI : C1837462;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
