Preferred Label : Renal and mullerian duct hypoplasia;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : In a brother and sister born to nonconsanguineous parents, Davee et al. (1992) described
renal hypoplasia, mullerian duct hypoplasia, and strikingly similar facial features.
Facies consisted of frontal bossing, hypertelorism, strabismus, short nose, and mild
micrognathia. Both sibs had severe growth and developmental retardation. A small horseshoe
kidney and an absent uterus were the primary urogenital features in the girl. Her
brother had an anteriorly displaced urethral meatus and a small right hydrocele; the
left testis was in the inguinal canal and his kidneys were hypoplastic but functional.
*FIELD* RF 1. Davee, M. A.; Moore, C. A.; Bull, M. J.; Hodes, M. E.: Familial occurrence
of renal and mullerian duct hypoplasia, craniofacial anomalies, severe growth and
developmental delay. Am. J. Med. Genet. 44: 293-296, 1992. *FIELD* CS GU: Renal hypoplasia;
Horseshoe kidney; Absent uterus; Anteriorly displaced urethral meatus; Hydrocele;
Inguinal testis; Mullerian duct hypoplasia;
Inheritance : Autosomal recessive;
Prefixed ID : 266810;
Origin ID : 266810;
UMLS CUI : C1849439;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
