Proud-Levine-Carpenter Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Proud-Levine Carpenter syndrome is a very rare congenital disease with the main features microcephaly , corpus callosum and genital malformation .
Synonyms are: Proud's syndrome; Microcephaly-corpus callosum-agenesis-genital malformation syndrome; English X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum; ACC with abnormal genitalia
The names refer to the authors or the first author of the first description from 1992 by the American Virginia K Proud, Clive Levine and Nancy J. Carpenter .
distribution
The frequency is unknown; inheritance is X-linked recessive .
root cause
The disease are mutations in the ARX - gene on the X chromosome locus p21.3 basis.
Other diseases with mutations in the ARX gene are:
Clinical manifestations
Clinical criteria are:
- Microcephaly
- Bar agenesis, developmental delay
- Seizures
- Scoliosis , joint contractures , facial dysmorphism
- Genital malformation with cryptorchidism and hypospadias .
Individual evidence
- ↑ a b c Microcephaly-corpus callosum-agenesis-genital malformation syndrome. In: Orphanet (Rare Disease Database).
- ^ VK Proud, C. Levine, NJ Carpenter: New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum. In: American journal of medical genetics. Vol. 43, No. 1-2, 1992 Apr 15-May 1, pp. 458-466, PMID 1605226
- ^ Proud syndrome. In: Online Mendelian Inheritance in Man . (English)
- ↑ ARX. In: Online Mendelian Inheritance in Man . (English)
