Braddock Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Braddock syndrome is a very rare, innate to VACTERL Association reminiscent malformation syndrome with additional pulmonary hypertension , blue sclera , netted lining of the larynx , malformed ears and short stature .
Synonyms are: FATHER-like syndrome - pulmonary hypertension - ear anomalies - short stature
It was first described in 2003 by the American human geneticist Stephen R. Braddock.
The syndrome should not be confused with the microdeletion syndrome 21q22, also known as Braddock-Carey syndrome .
distribution
The frequency is given as less than 1 in 1,000,000, so far two siblings have been reported. The inheritance is autosomal - recessive , the cause is not yet known.
Clinical manifestations
Clinical criteria are:
- Symptoms of the VACTERL Association
- Pulmonary hypertension
- Reticulated (incomplete) laryngeal atresia
- blue sclera
- malformed ears
- Growth retardation
- normal intelligence
Individual evidence
- ↑ a b c Braddock syndrome. In: Orphanet (Rare Disease Database).
- ^ SR Braddock: A new recessive syndrome with VATER-like defects, pulmonary hypertension, abnormal ears, blue sclera, laryngeal webs, and persistent growth deficiency. In: American journal of medical genetics. Part A. Volume 123A, Number 1, November 2003, pp. 95-99, doi: 10.1002 / ajmg.a.20497 , PMID 14556254 .
