X-linked mandibulofacial dysostosis

X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(39.0%)		 12002155
 Further delineation of mandibulofacial dysostosis: Toriello type.
Puri RD, Phadke SR.
Clin Dysmorphol. 2002;11(2):91-3.
Microcephaly
Body Height Facies Homo sapiens Male Mandibulofacial Dysostosis
        

Phenotype(s) retrieved from Orphanet

    Total: 24

HPO ID Term Frequency
HP:0000218 High palate Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000325 Triangular face Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000405 Conductive hearing impairment Very frequent (99-80%)
HP:0000407 Sensorineural hearing impairment Very frequent (99-80%)
HP:0000411 Protruding ear Very frequent (99-80%)
HP:0000426 Prominent nasal bridge Very frequent (99-80%)
HP:0000465 Webbed neck Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0009794 Branchial anomaly Very frequent (99-80%)
HP:0010669 Hypoplasia of the zygomatic bone Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0100840 Aplasia/Hypoplasia of the eyebrow Frequent (79-30%)
HP:0000324 Facial asymmetry Occasional (29-5%)
HP:0000508 Ptosis Occasional (29-5%)
HP:0000767 Pectus excavatum Occasional (29-5%)
HP:0001633 Abnormal mitral valve morphology Occasional (29-5%)
HP:0001642 Pulmonic stenosis Occasional (29-5%)
HP:0004414 Abnormality of the pulmonary artery Occasional (29-5%)
HP:0100555 Asymmetric growth 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