Microgastria - limb reduction defect
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MLRD |
| Number of Symptoms | 63 |
| OrphanetNr: | 2538 |
| OMIM Id: |
156810
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| ICD-10: |
Q87.8 |
| UMLs: |
C1834929 |
| MeSH: |
C537554 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 16 cases [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
-Rare developmental defect during embryogenesis Syndromic gastroduodenal malformation -Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000122) | Unilateral renal agenesis | 24 / 7739 | ||||
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(HPO:0008678) | Renal hypoplasia/aplasia | Occasional [Orphanet] | 127 / 7739 | |||
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(HPO:0000028) | Cryptorchidism | 347 / 7739 | ||||
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(HPO:0100542) | Abnormal localization of kidney | Occasional [Orphanet] | 64 / 7739 | |||
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(HPO:0000125) | Pelvic kidney | 10 / 7739 | ||||
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(HPO:0000107) | Renal cyst | Frequent [Orphanet] | 126 / 7739 | |||
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(HPO:0000813) | Bicornuate uterus | 22 / 7739 | ||||
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(HPO:0000800) | Cystic renal dysplasia | 31 / 7739 | ||||
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(HPO:0000085) | Horseshoe kidney | 39 / 7739 | ||||
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(HPO:0002007) | Frontal bossing | Frequent [Orphanet] | 366 / 7739 | |||
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(HPO:0005988) | Congenital muscular torticollis | Frequent [Orphanet] | 11 / 7739 | |||
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(HPO:0001357) | Plagiocephaly | Frequent [Orphanet] | 106 / 7739 | |||
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(HPO:0000528) | Anophthalmia | 42 / 7739 | ||||
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(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Occasional [Orphanet] | 142 / 7739 | |||
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(HPO:0002251) | Aganglionic megacolon | 78 / 7739 | ||||
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(HPO:0009601) | Aplasia/Hypoplasia of the thumb | Very frequent [Orphanet] | 80 / 7739 | |||
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(HPO:0003063) | Abnormality of the humerus | Frequent [Orphanet] | 36 / 7739 | |||
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(HPO:0002984) | Hypoplasia of the radius | 44 / 7739 | ||||
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(HPO:0009829) | Phocomelia | Occasional [Orphanet] | 20 / 7739 | |||
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(HPO:0002997) | Abnormality of the ulna | Frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0009380) | Aplasia of the fingers | Occasional [Orphanet] | 51 / 7739 | |||
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(HPO:0003022) | Hypoplasia of the ulna | 40 / 7739 | ||||
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(HPO:0012165) | Oligodactyly | 18 / 7739 | ||||
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(HPO:0001163) | Abnormality of the metacarpal bones | Frequent [Orphanet] | 149 / 7739 | |||
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(HPO:0004050) | Absent hand | Occasional [Orphanet] | 9 / 7739 | |||
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(HPO:0003042) | Elbow dislocation | Occasional [Orphanet] | 89 / 7739 | |||
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(HPO:0006660) | Aplastic clavicles | Occasional [Orphanet] | 70 / 7739 | |||
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(HPO:0002818) | Abnormality of the radius | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0009777) | Absent thumb | 31 / 7739 | ||||
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(HPO:0009827) | Amelia | Occasional [Orphanet] | 12 / 7739 | |||
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(HPO:0001180) | Hand oligodactyly | 17 / 7739 | ||||
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(HPO:0002575) | Tracheoesophageal fistula | Occasional [Orphanet] | 54 / 7739 | |||
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(HPO:0001743) | Abnormality of the spleen | Very frequent [Orphanet] | 37 / 7739 | |||
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(HPO:0002023) | Anal atresia | Occasional [Orphanet] | 135 / 7739 | |||
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(HPO:0100841) | Microgastria | Very frequent [Orphanet] | 1 / 7739 | |||
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(HPO:0002566) | Intestinal malrotation | Occasional [Orphanet] | 89 / 7739 | |||
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(HPO:0011467) | Absent gallbladder | 6 / 7739 | ||||
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(HPO:0002240) | Hepatomegaly | Occasional [Orphanet] | 467 / 7739 | |||
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(HPO:0002020) | Gastroesophageal reflux | 101 / 7739 | ||||
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(HPO:0001746) | Asplenia | 19 / 7739 | ||||
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(HPO:0001080) | Biliary tract abnormality | 26 / 7739 | ||||
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(HPO:0002577) | Abnormality of the stomach | Very frequent [Orphanet] | 84 / 7739 | |||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0001631) | Atria septal defect | Occasional [Orphanet] | 274 / 7739 | |||
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(HPO:0001660) | Truncus arteriosus | Occasional [Orphanet] | 21 / 7739 | |||
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(HPO:0001684) | Secundum atrial septal defect | 14 / 7739 | ||||
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(HPO:0030680) | Abnormality of cardiovascular system morphology | Occasional [Orphanet] | 355 / 7739 | |||
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(HPO:0004384) | Type I truncus arteriosus | 1 / 7739 | ||||
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(HPO:0002101) | Abnormal lung lobation | Occasional [Orphanet] | 33 / 7739 | |||
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(HPO:0001274) | Agenesis of corpus callosum | 142 / 7739 | ||||
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(HPO:0007370) | Aplasia/Hypoplasia of the corpus callosum | Occasional [Orphanet] | 180 / 7739 | |||
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(OMIM) | Hyposplenia | 2 / 7739 | ||||
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(HPO:0002139) | Arrhinencephaly | 13 / 7739 | ||||
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(HPO:0002536) | Abnormal cortical gyration | Occasional [Orphanet] | 72 / 7739 | |||
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(OMIM) | Terminal transverse defects of humerus | 1 / 7739 | ||||
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(HPO:0002132) | Porencephaly | 18 / 7739 | ||||
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(HPO:0012443) | Abnormality of brain morphology | Occasional [Orphanet] | 45 / 7739 | |||
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(HPO:0010664) | Fusion of the left and right thalami | 1 / 7739 | ||||
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(OMIM) | Splenogonadal fusion | 1 / 7739 | ||||
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(HPO:0003745) | Sporadic | 131 / 7739 | ||||
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(HPO:0002126) | Polymicrogyria | 64 / 7739 | ||||
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(HPO:0001522) | Death in infancy | Frequent [Orphanet] | 275 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Robert (1842) reported the case of a girl with microgastria, hypoplastic left forearm, hand, and wrist, and asplenia. A similar pattern of malformations was reported by Schulz and Niemann (1971), Aintablian et al. (1987), and Lueder et al. ... |