Preferred Label : Vitiligo, progressive, with impaired intellectual development and urethral duplication;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : Vitiligo, progressive, with mental retardation and urethral duplication;
Description : Labrune et al. (1992) reported the case of a boy, born of first-cousin Algerian parents,
who had progressive vitiligo from the age of 12 years and retarded psychomotor development.
A beaked nose and high, narrow palate were noted as well as distal duplication of
the urethra. Growth was retarded. No chromosomal or immunologic defects were detected,
thus excluding Fanconi anemia, Bloom syndrome, xeroderma pigmentosum, and ataxia telangiectasia,
as well as Nijmegen breakage syndrome. *FIELD* RF 1. Labrune, P.; Assathiany, R.;
Penso, D.; Odievre, M.: Progressive vitiligo, mental retardation, facial dysmorphism,
and urethral duplication without chromosomal breakage or immunodeficiency. J. Med.
Genet. 29: 592-594, 1992. *FIELD* CS Skin: Progressive vitiligo Neuro: Retarded psychomotor
development GU: Distal urethral duplication;
Inheritance : Autosomal recessive;
Prefixed ID : 277465;
Origin ID : 277465;
UMLS CUI : C1848532;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
