Charlie M syndrome

Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976.



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Narrow down the case reports



Total: 1 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(27.8%)
9849371
Oromandibular-limb hypogenesis syndromes: a case of aglossia with an intraoral band.
Grippaudo FR, Kennedy DC.
Br J Plast Surg. 1998;51(6):480-3.
Confusion Aglossia
Child Homo sapiens Limb Deformities, Congenital Male Mandible Mouth Abnormalities Tongue
        

Phenotype(s) retrieved from Orphanet

    Total: 16

HPO ID Term Frequency
HP:0000160 Narrow mouth Very frequent (99-80%)
HP:0000233 Thin vermilion border Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001171 Split hand Very frequent (99-80%)
HP:0001231 Abnormal fingernail morphology Very frequent (99-80%)
HP:0006101 Finger syndactyly Very frequent (99-80%)
HP:0008388 Abnormal toenail morphology Very frequent (99-80%)
HP:0009804 Reduced number of teeth Very frequent (99-80%)
HP:0100335 Non-midline cleft lip Very frequent (99-80%)
HP:0000322 Short philtrum Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0001163 Abnormality of the metacarpal bones Frequent (79-30%)
HP:0000400 Macrotia Occasional (29-5%)
HP:0001199 Triphalangeal thumb Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0025410 Splenogonadal fusion 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID