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X-linked mandibulofacial dysostosis

MedGen UID:
375543
Concept ID:
C1844918
Disease or Syndrome
Synonyms: Branchial arch syndrome X-linked; Mandibulofacial dysostosis Toriello type; MFD Toriello type
SNOMED CT: X-linked mandibulofacial dysostosis (719813003); Mandibulofacial dysostosis Toriello type (719813003)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0010539
OMIM®: 301950
Orphanet: ORPHA1131

Definition

An extremely rare multiple congenital abnormality syndrome that has characteristics of 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. [from SNOMEDCT_US]

Clinical features

From HPO
Cryptorchidism
MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
Pulmonic stenosis
MedGen UID:
408291
Concept ID:
C1956257
Disease or Syndrome
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
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.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Protruding ear
MedGen UID:
343309
Concept ID:
C1855285
Finding
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Specific learning disability
MedGen UID:
871302
Concept ID:
C4025790
Mental or Behavioral Dysfunction
Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Webbed neck
MedGen UID:
113154
Concept ID:
C0221217
Congenital Abnormality
Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
High, narrow palate
MedGen UID:
324787
Concept ID:
C1837404
Finding
The presence of a high and narrow palate.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVX-linked mandibulofacial dysostosis
Follow this link to review classifications for X-linked mandibulofacial dysostosis in Orphanet.

Recent clinical studies

Etiology

Opitz JM, Mollica F, Sorge G, Milana G, Cimino G, Caltabiano M
Am J Med Genet 1993 Oct 1;47(5):660-78. doi: 10.1002/ajmg.1320470517. PMID: 8266994

Diagnosis

Alfi D, Lam D, Gateno J
Atlas Oral Maxillofac Surg Clin North Am 2014 Sep;22(2):167-73. Epub 2014 Jul 15 doi: 10.1016/j.cxom.2014.04.003. PMID: 25171997
Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX; UW Center for Mendelian Genomics, Pilchman L, Sahraoui R, Stabley DL, Sol-Church K
Am J Med Genet A 2014 Sep;164A(9):2240-9. Epub 2014 Jun 18 doi: 10.1002/ajmg.a.36633. PMID: 24942156Free PMC Article
Stoll C, Viville B, Treisser A, Gasser B
Am J Med Genet 1998 Jul 24;78(4):345-9. doi: 10.1002/(sici)1096-8628(19980724)78:4<345::aid-ajmg8>3.0.co;2-k. PMID: 9714437
Ensink RJ, Brunner HG, Cremers CW
Genet Couns 1997;8(4):285-90. PMID: 9457496
Moore GE
Int Rev Cytol 1995;158:215-77. doi: 10.1016/s0074-7696(08)62488-2. PMID: 7721539

Prognosis

Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX; UW Center for Mendelian Genomics, Pilchman L, Sahraoui R, Stabley DL, Sol-Church K
Am J Med Genet A 2014 Sep;164A(9):2240-9. Epub 2014 Jun 18 doi: 10.1002/ajmg.a.36633. PMID: 24942156Free PMC Article

Clinical prediction guides

Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX; UW Center for Mendelian Genomics, Pilchman L, Sahraoui R, Stabley DL, Sol-Church K
Am J Med Genet A 2014 Sep;164A(9):2240-9. Epub 2014 Jun 18 doi: 10.1002/ajmg.a.36633. PMID: 24942156Free PMC Article
Stoll C, Viville B, Treisser A, Gasser B
Am J Med Genet 1998 Jul 24;78(4):345-9. doi: 10.1002/(sici)1096-8628(19980724)78:4<345::aid-ajmg8>3.0.co;2-k. PMID: 9714437

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