Craniodigital-intellectual disability syndrome

Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.



Input patient's signs and symptoms


Narrow down the case reports



Total: 1 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(31.0%)		 7717418
 Craniodigital syndromes: report of a child with Filippi syndrome and discussion of differential diagnosis.
Toriello HV, Higgins JV.
Am J Med Genet. 1995;55(2):200-4.
Syndactyly
Cleft Palate Differential Diagnosis Face Homo sapiens Infant, Newborn Intellectual Disability Male Microcephaly Phenotype Syndactyly Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 14

HPO ID Term Frequency
HP:0000248 Brachycephaly Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000446 Narrow nasal bridge Very frequent (99-80%)
HP:0000527 Long eyelashes Very frequent (99-80%)
HP:0000574 Thick eyebrow Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0002230 Generalized hirsutism Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0006101 Finger syndactyly Very frequent (99-80%)
HP:0007477 Abnormal dermatoglyphics Very frequent (99-80%)
HP:0010720 Abnormal hair pattern Very frequent (99-80%)
HP:0100874 Thick hair Very frequent (99-80%)
HP:0003298 Spina bifida occulta 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