Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Phocomelia, Schinzel type

Orpha number ORPHA2879
Synonym(s) Absence of ulna and fibula
Al Awadi-Raas-Rothschild syndrome
Aplasia/hypoplasia of limbs and pelvis
Severe limb deficit
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q87.2
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder. Only a few cases have been described. Patients have intercalary limb deficiencies (phocomelia sometimes combined with polydactyly, oligodactyly or ectrodactyly), absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), skull defects (frequently a defect of the occipital bone with or without meningocele). Additional features may include thoracic dystrophy, unusual facies (dysplastic and large ears, and a high and narrow palate), and genital malformations (Mullerian aplasia, agenesis of the uterus and vagina, micropenis with cryptorchidism). Growth and mental development are normal. As most of the affected patients were born to consanguineous parents, autosomal recessive inheritance is presumed. A null mutation in the WNT7A gene (3p25) is responsible for this syndrome. It is a severe allelic form of Fuhrmann syndrome. The limb deficiencies and/or the absent pelvis may be detected by ultrasound. Some of the affected infants died shortly after birth.


(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image

Detailed information

Anesthesia guidelines
  • EN (2013,pdf)
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.