Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.



Input patient's signs and symptoms


Narrow down the case reports



Total: 0 (papers)

  


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

Phenotype(s) retrieved from Orphanet

    Total: 39

HPO ID Term Frequency
HP:0000238 Hydrocephalus Very frequent (99-80%)
HP:0000256 Macrocephaly Very frequent (99-80%)
HP:0000278 Retrognathia Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000682 Abnormality of dental enamel Very frequent (99-80%)
HP:0000691 Microdontia Very frequent (99-80%)
HP:0000958 Dry skin Very frequent (99-80%)
HP:0000963 Thin skin Very frequent (99-80%)
HP:0000966 Hypohidrosis Very frequent (99-80%)
HP:0001274 Agenesis of corpus callosum Very frequent (99-80%)
HP:0001288 Gait disturbance Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0002119 Ventriculomegaly Very frequent (99-80%)
HP:0002213 Fine hair Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0007360 Aplasia/Hypoplasia of the cerebellum Very frequent (99-80%)
HP:0008736 Hypoplasia of penis Very frequent (99-80%)
HP:0008872 Feeding difficulties in infancy Very frequent (99-80%)
HP:0010669 Hypoplasia of the zygomatic bone Very frequent (99-80%)
HP:0010864 Intellectual disability, severe Very frequent (99-80%)
HP:0010978 Abnormality of immune system physiology Very frequent (99-80%)
HP:0100840 Aplasia/Hypoplasia of the eyebrow Very frequent (99-80%)
HP:0000023 Inguinal hernia Occasional (29-5%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000286 Epicanthus Occasional (29-5%)
HP:0000490 Deeply set eye Occasional (29-5%)
HP:0000492 Abnormal eyelid morphology Occasional (29-5%)
HP:0000767 Pectus excavatum Occasional (29-5%)
HP:0000821 Hypothyroidism Occasional (29-5%)
HP:0001252 Muscular hypotonia Occasional (29-5%)
HP:0001561 Polyhydramnios Occasional (29-5%)
HP:0001852 Sandal gap Occasional (29-5%)
HP:0002558 Supernumerary nipple Occasional (29-5%)
HP:0002991 Abnormality of fibula morphology Occasional (29-5%)
HP:0010624 Aplastic/hypoplastic toenail Occasional (29-5%)


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