Flat face-microstomia-ear anomaly syndrome

Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.



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

Phenotype(s) retrieved from Orphanet

    Total: 32

HPO ID Term Frequency
HP:0000160 Narrow mouth Very frequent (99-80%)
HP:0000272 Malar flattening Very frequent (99-80%)
HP:0000276 Long face Very frequent (99-80%)
HP:0000337 Broad forehead Very frequent (99-80%)
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000348 High forehead Very frequent (99-80%)
HP:0000400 Macrotia Very frequent (99-80%)
HP:0000430 Underdeveloped nasal alae Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0000506 Telecanthus Very frequent (99-80%)
HP:0000535 Sparse and thin eyebrow Very frequent (99-80%)
HP:0000581 Blepharophimosis Very frequent (99-80%)
HP:0001611 Nasal speech Very frequent (99-80%)
HP:0002553 Highly arched eyebrow Very frequent (99-80%)
HP:0002705 High, narrow palate Very frequent (99-80%)
HP:0002714 Downturned corners of mouth Very frequent (99-80%)
HP:0003189 Long nose Very frequent (99-80%)
HP:0009738 Abnormality of the antihelix Very frequent (99-80%)
HP:0009896 Abnormality of the antitragus Very frequent (99-80%)
HP:0009906 Aplasia/Hypoplasia of the earlobes Very frequent (99-80%)
HP:0009912 Abnormality of the tragus Very frequent (99-80%)
HP:0010669 Hypoplasia of the zygomatic bone Very frequent (99-80%)
HP:0010751 Dimple chin Very frequent (99-80%)
HP:0012368 Flat face Very frequent (99-80%)
HP:0000023 Inguinal hernia Frequent (79-30%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000046 Scrotal hypoplasia Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0011830 Abnormal oral mucosa morphology Occasional (29-5%)
HP:0100490 Camptodactyly of finger 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