Oro-facio-digital syndrome type 2
| Classification according to ICD-10 | |
|---|---|
| Q87.0 | Congenital malformation syndromes with predominant involvement of the face |
| ICD-10 online (WHO version 2019) | |
The Oro-facial-digital syndrome type 2 or ( OFD II ) is a very rare genetic disease (Dysmorphiesyndrom) with a combination of deformities of hands and feet, face, upper lip column and hamartomas of the tongue and is one of the Oro-facial-digital syndromes .
Synonyms are: Mohr syndrome , Mohr-Claussen syndrome
The name refers to the authors of the first description from 1941 by the Norwegian human geneticist Lous Mohr (1886–1967) and a follow-up of the affected family in 1946 by the Norwegian geneticist O. Claussen .
The syndrome should not be confused with Mohr-Majewski syndrome .
Spread and cause
The frequency is given as less than 1 in 1,000,000, the inheritance is presumably autosomal - recessive . About 20 cases have been described so far. The etiology is not yet known.
Clinical manifestations
Clinical criteria are:
- Growth deficit with short stature
- Changes in extremities: preaxial polydactyly of both hands and feet with partial double placement of the big toe, brachydactyly , syndactyly and clinodactyly
- Facial changes: hypoplasia of the midface, hypertelorism , sloping eyelid axes, broad nasal roots, notched tip of the nose, cleft palate , tongue that is too small and lobed, frenulum of the tongue, small chin, deep-seated ears and missing teeth
- Scoliosis , funnel chest , hypotonia
- Conductive hearing loss
- Changes in the central nervous system : microcephaly , poreencephaly and hydrocephalus , cyst over the tentorium cerebelli
Differential diagnosis
Other types of orofacio-digital syndrome must be distinguished. The atrophy of the cerebellum is a key diagnostic criterion.
literature
- A. Rhouma, G. Horneff: Mohr-Claussen Syndrome or Oro-Facial-Digitales Syndrome (OFDS) Type II In: Clinical Pediatrics. Vol. 226, No. 2, April 2014, ISSN 1439-3824 , pp. 78-79, doi: 10.1055 / s-0033-1363243 . PMID 24643746 .
Individual evidence
- ↑ a b 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 .
- ↑ OL Mohr: A hereditary lethal syndrome in man. In: Avh. Norske Videnskad. Oslo Vol. 14, pp. 1-18, 1941
- ↑ O. Claussen: Et arvelig syndrome omfattende tungemissdannelse og polydaktyli. In: Nordisk Medicin Vol. 30, pp. 1147-1151, 1946.
- ↑ a b c Oro-facio-digital syndrome type 2. In: Orphanet (database for rare diseases).
