Micro gastric disease - shortening of the extremities
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Microgastria - limb shortening is a very rare congenital disease with a combination of Microgastria and malformations of the limbs. Usually, microgastria is associated with other malformations, while isolated microgastria is very rare.
Synonyms are: English Microgastria-Limb Reduction Defects Association; MLRD
The first description comes from the year 1842 by the Marburg doctor HLF Robert., The definition as a syndrome by Reinhard D. Schulz and F. Niemann.
distribution
The frequency is given as less than 1 in 1,000,000, the cause is unknown. So far, fewer than 15 people have been reported to be affected, 3 of whom were twins.
A developmental disorder during the 4th or 5th week of the embryo is assumed.
Clinical manifestations
Clinical criteria are:
- Manifestation in newborn or toddler age
- Vomiting, refusal to drink due to the small stomach
- Enlargement of the esophagus
- Malnutrition
- repeated respiratory infections
- Malformations of the limbs such as absence of the thumb , ulna , spoke , amelia
In addition, there may be malformations of internal organs such as asplenia , malrotation , situs ambiguus , cleft formations in the larynx and trachea .
diagnosis
The diagnosis arises from the combination of clinical findings.
literature
- LI al-Gazali, M. Bakir, A. Dawodu, R. Nath, HM al-Tatari, M. Gerami: Recurrence of the severe form of microgastria-limb reduction defect in a consanguineous family. In: Clinical dysmorphology. Volume 8, Number 4, October 1999, pp. 253-258, PMID 10532173 (review).
Individual evidence
- ↑ a b c Micro gastric disease - shortening of the extremities. In: Orphanet (Rare Disease Database).
- ^ HLF Robert: Inhibition of the stomach, deficiency of the spleen and the network. In: Archive for Anatomy, Physiology and Scientific Medicine , 1842, pp. 57–60, [1]
- ↑ Reinhard D. Schulz, F. Niemann: Kongenitale Mikrogastrie in connection with skeletal malformations — a new syndrome. In: Helvetica paediatrica acta. Volume 26, Number 2, June 1971, pp. 185-191, PMID 5139246 .
- ↑ MICROGASTRIA-LIMB REDUCTION DEFECTS ASSOCIATION. In: Online Mendelian Inheritance in Man . (English)
