Crane-Heise syndrome

Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.



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Narrow down the case reports



Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(26.3%)		 21094705
 Crane-Heise syndrome: two further case reports.
Petit F, Devisme L, Toutain A, Houfflin-Debarge V, Dieux-Coeslier A, Manouvrier-Hanu S, Andrieux J, Holder-Espinasse M.
Eur J Med Genet. 2011;54(2):169-72.
Hypertelorism Anteverted nares
Congenital Abnormality Craniofacial Abnormalities Females Gestational Age Homo sapiens Infant, Newborn Pregnancy Pregnancy Trimester, Second Ultrasonography
        

Phenotype(s) retrieved from Orphanet

    Total: 20

HPO ID Term Frequency
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0000882 Hypoplastic scapulae Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0001762 Talipes equinovarus Very frequent (99-80%)
HP:0004331 Decreased skull ossification Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0006660 Aplastic clavicle Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0001387 Joint stiffness Frequent (79-30%)
HP:0001770 Toe syndactyly Frequent (79-30%)
HP:0006101 Finger syndactyly Frequent (79-30%)
HP:0009882 Short distal phalanx of finger Frequent (79-30%)
HP:0100569 Abnormally ossified vertebrae Frequent (79-30%)
HP:0002119 Ventriculomegaly Occasional (29-5%)
HP:0007370 Aplasia/Hypoplasia of the corpus callosum Occasional (29-5%)
HP:0008736 Hypoplasia of penis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 4

HPO ID Term # of case reports
HP:0000316 Hypertelorism 1
HP:0000358 Posteriorly rotated ears 1
HP:0000463 Anteverted nares 1
HP:0001511 Intrauterine growth retardation 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID