Medicine:Cryptorchidism-arachnodactyly-intellectual disability syndrome
From HandWiki
| Cryptorchidism-arachnodactyly-intellectual disabilities syndrome | |
|---|---|
| Specialty | Medical genetics |
| Symptoms | respiratory, limb and lung abnormalities with developmental delay and intellectual disabilities |
| Prevention | none |
| Frequency | unknown |
Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare multi-systemic genetic disorder of unknown prevalence which is characterized by psycho-motor developmental delay, severe intellectual disabilities, severe muscle hypoplasia, absence of subcutaneous fat, generalized contractures, dolichocephaly, esotropia, asymmetric ears, and high palate, kyphoscoliosis, unilateral hypoplasia of the bronchial system, recurrent respiratory tract infections, atelectasis, arachnodactyly, cryptorchidism, hypospadias, and testicular agenesis.[1][2][3] No new cases have been reported since 1970.[4]
References
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Cryptorchidism arachnodactyly intellectual disability syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1548.
- ↑ "Van Benthem-Driessen-Hanveld Syndrome" (in en). http://www.dovemed.com/diseases-conditions/van-benthem-driessen-hanveld-syndrome/.
- ↑ "Van Benthem-Driessen-Hanveld syndrome - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/860/van-benthem-driessen-hanveld-syndrome.
- ↑ "Cryptorchidism-arachnodactyly-intellectual disability syndrome (Concept Id: C4707233) - MedGen - NCBI" (in en). https://www.ncbi.nlm.nih.gov/medgen/1647147.
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