Emery Nelson Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Emery-Nelson syndrome is a very rare congenital disease with the main features short stature , deformation of hands and feet and facial dysmorphia with a flat profile .
Synonyms are: hand and foot deformities - flat face profile; english Hand and foot deformity-flat facies syndrome
The name refers to the authors of the first description from 1970 by the Scottish human geneticists Alan EH Emery and MM Nelson.
The syndrome should not be confused with Nelson’s tumor, also known as Nelson’s syndrome .
distribution
The frequency is given as less than 1 in 1,000,000, so far only one family has been described. Inheritance mode and cause are not yet known.
Clinical manifestations
Clinical criteria are:
- Manifestation in newborn to toddler age
- Short stature
- Deformation of the hands and feet with flexion contracture of the first 3 metacarpophalangeal joints, extension contracture of the thumb , "claw toes"
- Facial abnormalities with a flat face profile, high forehead , flattened nasal bridge, long philtrum , high palatal arch
In addition, there can be hypotonia in babies, intellectual disabilities, thin skin over the hands and feet, abnormalities in the nails and hair .
Individual evidence
- ↑ a b c Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ a b c Emery-Nelson Syndrome. In: Orphanet (Rare Disease Database).
- ^ AE Emery, MM Nelson: A familial syndrome of short stature, deformities of the hands and feet, and an unusual facies. In: Journal of Medical Genetics . Volume 7, Number 4, December 1970, pp. 379-382, PMID 5501704 , PMC 1468949 (free full text)
