acrodysostosis
Sign in to saveAlso known as Arkless-Graham syndrome, Maroteaux-Malamut syndrome, Nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome, Acrodysplasia, Peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) syndrome
Acrodysostosis is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, intellectual disability in approximately 90% of affected children, and peculiar facies. Other common abnormalities include short head (as measured front to back), small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur.
In the Vinony graph
Vinony's link graph records 5 inbound references to acrodysostosis, and connects out to congenital disorder, nose and genetics.
Vinony files it under Congenital disorders, Rare diseases and Syndromes with craniofacial abnormalities.
Vinony links it to 5 Wikipedia language editions.
Wikidata facts
- Subclass of
- dysostosis
Show 4 more facts
- exact match
- www.orpha.net/ORDO/Orphanet_950
- ICD-9-CM
- 756.59
- genetic association
- PRKAR1A
- on focus list of Wikimedia project
- WikiProject Medicine
Sources (2)
via Wikidata · CC0
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Encyclopedic overview
12 sectionsContents
- Signs and symptoms
- Bone issues
- Endocrine
- Behavioural / Developmental / Emotional
- Craniofacial and dental
- Cardiology
- Causes
- Treatment
- Research
- Media
- References
- External links
Acrodysostosis is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, intellectual disability in approximately 90% of affected children, and peculiar facies. Other common abnormalities include short head (as measured front to back), small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur.
Other common abnormalities include short head (as measured front to back), small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur. ==Signs and symptoms== Acrodysostosis presents with a wide spectrum of clinical manifestations. The following is a list of conditions and complications associated with acrodysostosis.
Excerpted from Wikipedia’s “acrodysostosis” article, available under the CC BY-SA 4.0 licence.