Microcephaly - lymphedema - chorioretinopathy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION, AUTOSOMAL DOMINANT LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME MLCRD SYNDROME LYMPHEDEMA AND RETINAL FOLDS WITH MICROCEPHALY AND MICROPHTHALMOS MICROCEPHALY, LYMPHEDEMA, CHORIORETINAL DYSPLASIA SYNDROME CDMMR SYNDROME MCLMR |
| Number of Symptoms | 69 |
| OrphanetNr: | 2526 |
| OMIM Id: |
152950
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| ICD-10: |
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| UMLs: |
C1835265 |
| MeSH: |
C537711 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Retinal dystrophy
-Rare eye disease -Rare genetic disease Syndrome with microcephaly as major feature -Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease Syndromic lymphedema -Rare circulatory system disease -Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0000518) | Cataract | Occasional [Orphanet] | 454 / 7739 | |||
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(HPO:0007731) | Chorioretinal dysplasia | 16 / 7739 | ||||
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(HPO:0007858) | Chorioretinal lacunae | rare [HPO:skoehler] | 2 / 7739 | |||
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(HPO:0001145) | Chorioretinopathy | 3 / 7739 | ||||
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(HPO:0000648) | Optic atrophy | rare [HPO:probinson] | 238 / 7739 | |||
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(HPO:0000479) | Abnormality of the retina | Occasional [Orphanet] | 74 / 7739 | |||
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(HPO:0000510) | Rod-cone dystrophy | Frequent [Orphanet] | 266 / 7739 | |||
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(HPO:0007786) | Lacunar retinal depigmentation | 1 / 7739 | ||||
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(HPO:0000541) | Retinal detachment | Occasional [Orphanet] | 87 / 7739 | |||
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(HPO:0000488) | Retinopathy | Occasional [Orphanet] | 75 / 7739 | |||
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(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Occasional [Orphanet] | 142 / 7739 | |||
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(HPO:0000545) | Myopia | Frequent [Orphanet] occasional [HPO:probinson] | 286 / 7739 | |||
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(HPO:0000572) | Visual loss | Occasional [Orphanet] | 272 / 7739 | |||
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(HPO:0000501) | Glaucoma | Occasional [Orphanet] | 180 / 7739 | |||
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(HPO:0000508) | Ptosis | Occasional [Orphanet] | 459 / 7739 | |||
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(HPO:0002103) | Abnormality of the pleura | Occasional [Orphanet] | 58 / 7739 | |||
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(HPO:0004936) | Venous thrombosis | Occasional [Orphanet] | 41 / 7739 | |||
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(HPO:0001031) | Subcutaneous lipoma | Occasional [Orphanet] | 112 / 7739 | |||
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(HPO:0004322) | Short stature | Occasional [Orphanet] | 1232 / 7739 | |||
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(HPO:0001631) | Atria septal defect | Occasional [Orphanet] | 274 / 7739 | |||
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(HPO:0003549) | Abnormality of connective tissue | Occasional [Orphanet] | 22 / 7739 | |||
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(HPO:0000969) | Edema | Frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0001004) | Lymphedema | Very frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] | 990 / 7739 | |||
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(HPO:0001276) | Hypertonia | Occasional [Orphanet] | 317 / 7739 | |||
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(HPO:0001256) | Intellectual disability, mild | 141 / 7739 | ||||
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(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
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(HPO:0000303) | Mandibular prognathia | 179 / 7739 | ||||
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(HPO:0005469) | Flat occiput | 30 / 7739 | ||||
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(HPO:0000252) | Microcephaly | Very frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0011220) | Prominent forehead | rare [HPO:skoehler] | 137 / 7739 | |||
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(HPO:0000340) | Sloping forehead | Occasional [Orphanet] | 86 / 7739 | |||
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(HPO:0001595) | Abnormality of the hair | Frequent [Orphanet] | 89 / 7739 | |||
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(HPO:0008388) | Abnormality of the toenails | Frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0001820) | Leukonychia | Frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0000478) | Abnormality of the eye | Very frequent [Orphanet] | 126 / 7739 | |||
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(HPO:0000494) | Downslanted palpebral fissures | 328 / 7739 | ||||
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(HPO:0000293) | Full cheeks | Occasional [Orphanet] | 85 / 7739 | |||
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(HPO:0000307) | Pointed chin | Occasional [Orphanet] | 45 / 7739 | |||
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(HPO:0009891) | Underdeveloped supraorbital ridges | Occasional [Orphanet] | 36 / 7739 | |||
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(HPO:0000582) | Upslanted palpebral fissure | Occasional [Orphanet] rare [HPO:skoehler] | 185 / 7739 | |||
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(HPO:0000179) | Thick lower lip vermilion | 72 / 7739 | ||||
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(HPO:0012471) | Thick vermilion border | Occasional [Orphanet] | 115 / 7739 | |||
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(HPO:0002002) | Deep philtrum | 42 / 7739 | ||||
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(HPO:0000343) | Long philtrum | Occasional [Orphanet] | 262 / 7739 | |||
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(HPO:0000219) | Thin upper lip vermilion | 112 / 7739 | ||||
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(HPO:0000463) | Anteverted nares | Occasional [Orphanet] | 305 / 7739 | |||
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(HPO:0000455) | Broad nasal tip | 67 / 7739 | ||||
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(HPO:0005280) | Depressed nasal bridge | 381 / 7739 | ||||
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(HPO:0000445) | Wide nose | Occasional [Orphanet] | 190 / 7739 | |||
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(HPO:0000286) | Epicanthus | Occasional [Orphanet] | 371 / 7739 | |||
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(HPO:0000606) | Abnormality of the periorbital region | Occasional [Orphanet] | 96 / 7739 | |||
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(HPO:0000411) | Protruding ear | Occasional [Orphanet] | 140 / 7739 | |||
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(HPO:0000958) | Dry skin | Occasional [Orphanet] | 152 / 7739 | |||
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(HPO:0001055) | Erysipelas | Occasional [Orphanet] | 6 / 7739 | |||
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(HPO:0200042) | Skin ulcer | Occasional [Orphanet] | 138 / 7739 | |||
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(HPO:0001072) | Thickened skin | Occasional [Orphanet] | 87 / 7739 | |||
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(HPO:0100758) | Gangrene | Occasional [Orphanet] | 25 / 7739 | |||
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(HPO:0004377) | Hematological neoplasm | Occasional [Orphanet] | 12 / 7739 | |||
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(HPO:0012795) | Abnormality of the optic disc | Occasional [Orphanet] | 187 / 7739 | |||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 | |||
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(OMIM) | Broad, large nasal tip | 1 / 7739 | ||||
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(OMIM) | Hypermetropic astigmatism (in some patients) | 1 / 7739 | ||||
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(OMIM) | Lymphedema, dorsa of feet | 1 / 7739 | ||||
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(OMIM) | Lymphedema, hands (rare) | 1 / 7739 | ||||
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(OMIM) | Lymphedema, lower extremities | 3 / 7739 | ||||
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(OMIM) | Normal intelligence to mild or moderate mental retardation | 1 / 7739 | ||||
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(OMIM) | Prominent, full lip (in some patients) | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often ... |
| Clinical Description OMIM |
Microcephaly with chorioretinopathy (of a type that suggests congenital infection) in combination with mental retardation was reported by Tenconi et al. (1981). Warburg and Heuer (1983) presented the cases of 2 brothers and their mother who had the ... |
| Molecular genetics OMIM |
In 5 unrelated probands with microcephaly, lymphedema, and mild learning difficulties, only 1 of whom had eye abnormalities (hypermetropic astigmatism and chorioretinopathy), Ostergaard et al. (2012) performed whole-exome sequencing and identified heterozygosity for truncating mutations in the KIF11 ... |