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Flat face-microstomia-ear anomaly syndrome

MedGen UID:
356655
Concept ID:
C1866962
Disease or Syndrome
Synonym: Simosa cranio facial syndrome
SNOMED CT: Simosa Penchaszadeh Bustos syndrome (773750003); Blepharophimosis, telecanthus, microstomia syndrome (773750003); Flat face, microstomia, ear anomaly syndrome (773750003); Simosa craniofacial syndrome (773750003)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Monarch Initiative: MONDO:0008421
OMIM®: 182150
Orphanet: ORPHA1968

Definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of 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. [from SNOMEDCT_US]

Clinical features

From HPO
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Posteriorly rotated ears
MedGen UID:
96566
Concept ID:
C0431478
Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Abnormal pinna morphology
MedGen UID:
167800
Concept ID:
C0857379
Congenital Abnormality
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Hearing abnormality
MedGen UID:
871365
Concept ID:
C4025860
Finding
An abnormality of the sensory perception of sound.
Inguinal hernia
MedGen UID:
6817
Concept ID:
C0019294
Finding
Protrusion of the contents of the abdominal cavity through the inguinal canal.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Hypernasal speech
MedGen UID:
107884
Concept ID:
C0566620
Finding
A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.
Blepharophimosis
MedGen UID:
2670
Concept ID:
C0005744
Congenital Abnormality
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Narrow mouth
MedGen UID:
44435
Concept ID:
C0026034
Congenital Abnormality
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
Telecanthus
MedGen UID:
140836
Concept ID:
C0423113
Finding
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Sparse eyebrow
MedGen UID:
371332
Concept ID:
C1832446
Finding
Decreased density/number of eyebrow hairs.
Underdeveloped nasal alae
MedGen UID:
322332
Concept ID:
C1834055
Congenital Abnormality
Thinned, deficient, or excessively arched ala nasi.
Long face
MedGen UID:
324419
Concept ID:
C1836047
Finding
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
High, narrow palate
MedGen UID:
324787
Concept ID:
C1837404
Finding
The presence of a high and narrow palate.
Long nose
MedGen UID:
326583
Concept ID:
C1839798
Finding
Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.
Broad forehead
MedGen UID:
338610
Concept ID:
C1849089
Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Flat face
MedGen UID:
342829
Concept ID:
C1853241
Finding
Absence of concavity or convexity of the face when viewed in profile.
Depressed nasal tip
MedGen UID:
347214
Concept ID:
C1859717
Finding
Decreased distance from the nasal tip to the nasal base.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Highly arched eyebrow
MedGen UID:
358357
Concept ID:
C1868571
Finding
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
Dimple chin
MedGen UID:
1370532
Concept ID:
C4317152
Anatomical Abnormality
A persistent midline depression of the skin over the fat pad of the chin.
Abnormality of the skin
MedGen UID:
11449
Concept ID:
C0037268
Congenital Abnormality
An abnormality of the skin.
Abnormal hair morphology
MedGen UID:
56381
Concept ID:
C0157733
Finding
An abnormality of the hair.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFlat face-microstomia-ear anomaly syndrome

Professional guidelines

PubMed

Khan AO, AlAbdi L, Patel N, Helaby R, Hashem M, Abdulwahab F, AlBadr FB, Alkuraya FS
Mol Genet Genomic Med 2021 May;9(5):e1628. Epub 2021 May 5 doi: 10.1002/mgg3.1628. PMID: 33951325Free PMC Article
Mahmoud R, Leonenko A, Butler MG, Flodman P, Gold JA, Miller JL, Roof E, Dykens E, Driscoll DJ, Kimonis V
Clin Genet 2021 Jul;100(1):29-39. Epub 2021 Mar 13 doi: 10.1111/cge.13947. PMID: 33615449Free PMC Article
Sepulveda W, Dezerega V, Horvath E, Aracena M
J Ultrasound Med 1999 Oct;18(10):707-10. doi: 10.7863/jum.1999.18.10.707. PMID: 10511304

Recent clinical studies

Etiology

Gafner M, Garel C, Leibovitz Z, Valence S, Krajden Haratz K, Oegema R, Mancini GMS, Heron D, Bueltmann E, Burglen L, Rodriguez D, Huisman TAGM, Lequin MH, Arad A, Kidron D, Muqary M, Gindes L, Lev D, Boltshauser E, Lerman-Sagie T
AJNR Am J Neuroradiol 2023 Mar;44(3):334-340. Epub 2023 Feb 23 doi: 10.3174/ajnr.A7805. PMID: 36822823Free PMC Article
Rüsch CT, Bölsterli BK, Kottke R, Steinfeld R, Boltshauser E
Cerebellum 2020 Aug;19(4):569-582. doi: 10.1007/s12311-020-01135-5. PMID: 32410094
Kruszka P, Tekendo-Ngongang C, Muenke M
Curr Opin Pediatr 2019 Dec;31(6):702-707. doi: 10.1097/MOP.0000000000000816. PMID: 31693576
Mazurek D, Wyka J
Rocz Panstw Zakl Hig 2015;66(3):189-94. PMID: 26400113
Jagannathan J, Sansur CA, Shaffrey CI
Neurosurgery 2008 Sep;63(3 Suppl):104-16. doi: 10.1227/01.NEU.0000320386.08993.BE. PMID: 18812912

Diagnosis

Vargas Lebrón C, Ruiz Montesino MD, Moreira Navarrete V, Aróstegui Gorospe JI
Reumatol Clin (Engl Ed) 2020 Nov-Dec;16(6):499-501. Epub 2018 Dec 3 doi: 10.1016/j.reuma.2018.08.015. PMID: 30522940
Kruszka P, Tekendo-Ngongang C, Muenke M
Curr Opin Pediatr 2019 Dec;31(6):702-707. doi: 10.1097/MOP.0000000000000816. PMID: 31693576
Mazurek D, Wyka J
Rocz Panstw Zakl Hig 2015;66(3):189-94. PMID: 26400113
Jain U, Thakur G, Kallury A
BMJ Case Rep 2011 Oct 11;2011 doi: 10.1136/bcr.08.2011.4665. PMID: 22675013Free PMC Article
Happle R
Semin Dermatol 1995 Jun;14(2):111-21. doi: 10.1016/s1085-5629(05)80006-9. PMID: 7640190

Therapy

Mahmoud R, Leonenko A, Butler MG, Flodman P, Gold JA, Miller JL, Roof E, Dykens E, Driscoll DJ, Kimonis V
Clin Genet 2021 Jul;100(1):29-39. Epub 2021 Mar 13 doi: 10.1111/cge.13947. PMID: 33615449Free PMC Article
Mohd Yunos H, Green A
Ir J Med Sci 2018 Nov;187(4):965-968. Epub 2018 Feb 3 doi: 10.1007/s11845-018-1757-6. PMID: 29396778
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Am J Med Genet A 2016 Mar;170(3):670-5. Epub 2016 Feb 3 doi: 10.1002/ajmg.a.37476. PMID: 26842493
Chao PJ, Yang HY, Huang WH, Weng CH, Wang IK, Tsai AI, Yen TH
Biomed Res Int 2015;2015:897674. Epub 2015 Mar 31 doi: 10.1155/2015/897674. PMID: 25918724Free PMC Article
Clayton PE, Hanson D, Magee L, Murray PG, Saunders E, Abu-Amero SN, Moore GE, Black GC
Clin Endocrinol (Oxf) 2012 Sep;77(3):335-42. doi: 10.1111/j.1365-2265.2012.04428.x. PMID: 22624670

Prognosis

Aripirala P, Reddy N, Lingappa L, Konanki R, Varma DR, Raju S
Dev Med Child Neurol 2023 Jun;65(6):847-854. Epub 2022 Nov 15 doi: 10.1111/dmcn.15462. PMID: 36380707
Suriapperuma T, Randeny S, Mettananda S
J Med Case Rep 2022 Jul 22;16(1):284. doi: 10.1186/s13256-022-03512-6. PMID: 35864517Free PMC Article
Genton P, Velizarova R, Dravet C
Epilepsia 2011 Apr;52 Suppl 2:44-9. doi: 10.1111/j.1528-1167.2011.03001.x. PMID: 21463279
Edwards AO
Eye (Lond) 2008 Oct;22(10):1233-42. Epub 2008 Feb 29 doi: 10.1038/eye.2008.38. PMID: 18309337
Sommer A, Bartholomew DW
Am J Med Genet A 2003 Nov 15;123A(1):91-4. doi: 10.1002/ajmg.a.20501. PMID: 14556253

Clinical prediction guides

Ng R, Bjornsson HT, Fahrner JA, Harris J
J Intellect Disabil Res 2023 Feb;67(2):101-111. Epub 2022 Nov 27 doi: 10.1111/jir.12993. PMID: 36437529Free PMC Article
Soares JC, Urosas JG, Calarga KS, Pichelli TS, Limongi SC, Shahnaz N, Carvallo RM
Int J Pediatr Otorhinolaryngol 2016 Aug;87:164-71. Epub 2016 Jun 7 doi: 10.1016/j.ijporl.2016.06.022. PMID: 27368466
Premalatha, Kannan VP; Madhu
J Indian Soc Pedod Prev Dent 2010 Oct-Dec;28(4):322-5. doi: 10.4103/0970-4388.76169. PMID: 21273726
Gajecka M, Mackay KL, Shaffer LG
Am J Med Genet C Semin Med Genet 2007 Nov 15;145C(4):346-56. doi: 10.1002/ajmg.c.30154. PMID: 17918734
Slavotinek A, Shaffer LG, Shapira SK
J Med Genet 1999 Sep;36(9):657-63. PMID: 10507720Free PMC Article

Recent systematic reviews

Gaweł E, Celebańska D, Zwierzchowska A
BMC Public Health 2024 Feb 8;24(1):406. doi: 10.1186/s12889-024-17908-0. PMID: 38326795Free PMC Article
Le H, Jin E, Jewell A, Jackson-Cook C, Haskell GT, Couser N
Am J Med Genet A 2023 Jun;191(6):1639-1645. Epub 2023 Mar 20 doi: 10.1002/ajmg.a.63186. PMID: 36941760

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