Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome

Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 32

HPO ID Term Frequency
HP:0000248 Brachycephaly Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000337 Broad forehead Very frequent (99-80%)
HP:0000506 Telecanthus Very frequent (99-80%)
HP:0000668 Hypodontia Very frequent (99-80%)
HP:0001276 Hypertonia Very frequent (99-80%)
HP:0002006 Facial cleft Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0002558 Supernumerary nipple Very frequent (99-80%)
HP:0002650 Scoliosis Very frequent (99-80%)
HP:0007477 Abnormal dermatoglyphics Very frequent (99-80%)
HP:0007598 Bilateral single transverse palmar creases Very frequent (99-80%)
HP:0009748 Large earlobe Very frequent (99-80%)
HP:0010751 Dimple chin Very frequent (99-80%)
HP:0011304 Broad thumb Very frequent (99-80%)
HP:0100022 Abnormality of movement Very frequent (99-80%)
HP:0100543 Cognitive impairment Very frequent (99-80%)
HP:0100720 Hypoplasia of the ear cartilage Very frequent (99-80%)
HP:0000174 Abnormal palate morphology Frequent (79-30%)
HP:0000303 Mandibular prognathia Frequent (79-30%)
HP:0000324 Facial asymmetry Frequent (79-30%)
HP:0000384 Preauricular skin tag Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000568 Microphthalmia Frequent (79-30%)
HP:0000592 Blue sclerae Frequent (79-30%)
HP:0000612 Iris coloboma Frequent (79-30%)
HP:0000765 Abnormality of the thorax Frequent (79-30%)
HP:0001182 Tapered finger Frequent (79-30%)
HP:0001250 Seizures Frequent (79-30%)
HP:0100267 Lip pit Frequent (79-30%)
HP:0100490 Camptodactyly of finger Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID