Carpenter syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.0 | Congenital malformation syndromes with predominantly facial involvement Including: acrocephalosyndactyly syndromes Acrocephalosyndactyly syndromes [Apert] Freemann-Sheldon syndrome [Whistling-face syndrome] Goldenhar syndrome Cryptophthalmos syndrome Moebius syndrome Digital syndrome Oro-facio syndrome Robin Cyclopia |
| ICD-10 online (WHO version 2019) | |
The Carpenter syndrome , or Latin acrocephalopolyndactyly type II (ACPS II) is one of the craniofacial malformations and is a very rare syndrome consisting of:
- Asymmetrical skull deformity due to premature suture synostosis
- Syndactyly and Polydactyly
- Obesity
- Cryptorchidism and hypogenitalism
The disease is named after the first person who described it in 1909, the British pediatrician George Carpenter .
Synonyms are ACPS II; Acrocephalopolyndactyly type 2 .
The inheritance is autosomal recessive, the frequency is less than 1 in 1 million.
clinic
Striking findings are tower skulls with craniosynostosis , redundant fingers or toes, or syndactylia; Overweight with short stature, mostly intellectual disability. In addition, there are facial abnormalities such as wide cheekbones, flat nasal roots, deep ear roots, high narrow palate, hypoplasia of the upper or lower jaw and delayed tooth development .
Associated changes occur:
- Hydrocephalus
- Impairment of language development
- Heart defects (in one third)
Differential diagnosis
Among other things, Greig's syndrome must be distinguished .
literature
- CA Perlyn, JL Marsh: Craniofacial dysmorphology of Carpenter syndrome: Lessons from three affected siblings. In: Plastic and reconstructive surgery. Volume 121, Number 3, March 2008, pp. 971-981, ISSN 1529-4242 . doi: 10.1097 / 01.prs.0000299284.92862.6c . PMID 18317146
Individual evidence
- ^ Carpenter syndrome. In: Online Mendelian Inheritance in Man . (English)
- ^ W. Pschyrembel: Clinical dictionary. Verlag Walter de Gruyter, 265th edition (2014), ISBN 3-11-018534-2
- ^ B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9
- ↑ a b Carpenter syndrome. In: Orphanet (Rare Disease Database).
- ^ A b G. Carpenter: Case of acrocephaly with other congenital malformations. In: Proceedings of the Royal Society of Medicine , Volume 2, pp. 45–53 PMC 2047261 (free full text)
- ↑ JL Frias, AH Felman u. a .: Normal intelligence in two children with Carpenter syndrome. In: American journal of medical genetics. Volume 2, Number 2, 1978, pp. 191-199, ISSN 0148-7299 . doi: 10.1002 / ajmg.1320020210 . PMID 263437 .
