Alopecia - contractures - dwarfism - intellectual deficit
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ACD MENTAL RETARDATION SYNDROME |
| Number of Symptoms | 58 |
| OrphanetNr: | 1005 |
| OMIM Id: |
203550
|
| ICD-10: |
Q87.8 |
| UMLs: |
C0795895 |
| MeSH: |
C537051 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 5 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ectodermal dysplasia syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease |
Symptom Information:
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(HPO:0000268) | Dolichocephaly | 144 / 7739 | ||||
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(HPO:0000341) | Narrow forehead | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0000252) | Microcephaly | Frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0006282) | Generalized hypoplasia of dental enamel | 1 / 7739 | ||||
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(HPO:0000682) | Abnormality of dental enamel | Frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0000670) | Carious teeth | 145 / 7739 | ||||
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(HPO:0000316) | Hypertelorism | Frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0005105) | Abnormal nasal morphology | Frequent [Orphanet] | 114 / 7739 | |||
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(HPO:0000582) | Upslanted palpebral fissure | Frequent [Orphanet] | 185 / 7739 | |||
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(HPO:0000448) | Prominent nose | 56 / 7739 | ||||
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(HPO:0000262) | Turricephaly | Frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0000506) | Telecanthus | 156 / 7739 | ||||
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(HPO:0000545) | Myopia | Frequent [Orphanet] | 286 / 7739 | |||
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(HPO:0009738) | Abnormality of the antihelix | Frequent [Orphanet] | 37 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0002265) | Large fleshy ears | 5 / 7739 | ||||
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(HPO:0011039) | Abnormality of the helix | Frequent [Orphanet] | 33 / 7739 | |||
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(HPO:0006887) | Intellectual disability, progressive | 68 / 7739 | ||||
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(HPO:0010864) | Intellectual disability, severe | 120 / 7739 | ||||
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(HPO:0004209) | Clinodactyly of the 5th finger | Frequent [Orphanet] | 288 / 7739 | |||
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(HPO:0005048) | Synostosis of carpal bones | Frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0002808) | Kyphosis | Very frequent [Orphanet] | 289 / 7739 | |||
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(HPO:0004279) | Short palm | Frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0009473) | Joint contracture of the hand | 84 / 7739 | ||||
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(HPO:0010554) | Cutaneous finger syndactyly | 39 / 7739 | ||||
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(HPO:0002650) | Scoliosis | Occasional [Orphanet] | 705 / 7739 | |||
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(HPO:0001371) | Flexion contracture | 220 / 7739 | ||||
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(HPO:0002827) | Hip dislocation | 94 / 7739 | ||||
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(HPO:0009811) | Abnormality of the elbow | Frequent [Orphanet] | 30 / 7739 | |||
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(HPO:0003422) | Vertebral segmentation defect | Frequent [Orphanet] | 95 / 7739 | |||
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(HPO:0001850) | Abnormality of the tarsal bones | Frequent [Orphanet] | 40 / 7739 | |||
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(HPO:0000924) | Abnormality of the skeletal system | Occasional [Orphanet] | 114 / 7739 | |||
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(HPO:0004220) | Short middle phalanx of the 5th finger | 17 / 7739 | ||||
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(HPO:0006101) | Finger syndactyly | Frequent [Orphanet] | 198 / 7739 | |||
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(HPO:0001387) | Joint stiffness | Very frequent [Orphanet] | 322 / 7739 | |||
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(HPO:0005659) | Thoracic kyphoscoliosis | 2 / 7739 | ||||
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(HPO:0001385) | Hip dysplasia | Occasional [Orphanet] | 242 / 7739 | |||
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(HPO:0008850) | Severe postnatal growth retardation | 16 / 7739 | ||||
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(HPO:0004325) | Decreased body weight | Frequent [Orphanet] | 492 / 7739 | |||
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(HPO:0001511) | Intrauterine growth retardation | Very frequent [Orphanet] | 358 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001805) | Thick nail | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0001596) | Alopecia | Very frequent [Orphanet] | 162 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0000962) | Hyperkeratosis | Frequent [Orphanet] | 216 / 7739 | |||
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(HPO:0008064) | Ichthyosis | Occasional [Orphanet] | 108 / 7739 | |||
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(HPO:0004370) | Abnormality of temperature regulation | Very frequent [Orphanet] | 58 / 7739 | |||
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(OMIM) | Large soft ears | 1 / 7739 | ||||
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(OMIM) | Bilateral dislocated hips | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Slight cutaneous syndactyly, all digits | 1 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(OMIM) | Fifth digits short, esp. second phalanges | 1 / 7739 | ||||
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(OMIM) | Severe enamel dysplasia | 1 / 7739 | ||||
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(OMIM) | Marked myopia | 1 / 7739 | ||||
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(HPO:0400004) | Long ear | Frequent [Orphanet] | 94 / 7739 | |||
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(OMIM) | Severe caries | 1 / 7739 | ||||
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(OMIM) | Growth retardation, severe (if untreated) | 5 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Schinzel (1980) reported a female patient with alopecia and severe growth and mental retardation. He noted previous reports of 2 similar cases, one of which was in an offspring of first-cousin parents. These 2 patients died in the ... |