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Armfield syndrome(MRXSA)

MedGen UID:: 375800
•Concept ID:: C1846057
•: Disease or Syndrome

Synonym:	MRXSA
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. See: This record X-linked recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	FAM50A (Xq28)

Monarch Initiative:	MONDO:0010284
OMIM®:	300261
Orphanet:	ORPHA85276

Definition

MRXSA is an X-linked recessive neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, usually accompanied by walking difficulties and poor or absent speech. Affected individuals have dysmorphic features, including large head circumference, downslanting palpebral fissures, bulbous nose, high-arched palate, short stature, and small hands and feet. Ocular anomalies, including strabismus, exotropia, myopia, and keratoconus, are common. Some patients may develop seizures. Additional variable features, such as mild congenital heart defects, joint stiffness, renal anomalies, and hemangiomas, may also be present (summary by Lee et al., 2020). [from OMIM]

Clinical features

From HPO

Small hand

MedGen UID:: 108279
•Concept ID:: C0575802
•: Finding

Disproportionately small hand.

See: Feature record | Search on this feature

Short foot

MedGen UID:: 376415
•Concept ID:: C1848673
•: Finding

A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).

See: Feature record | Search on this feature

Abnormal hand morphology

MedGen UID:: 870655
•Concept ID:: C4025109
•: Anatomical Abnormality

Any structural anomaly of the hand.

See: Feature record | Search on this feature

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).

See: Feature record | Search on this feature

Seizure

MedGen UID:: 20693
•Concept ID:: C0036572
•: Sign or Symptom

A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

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Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

See: Feature record | Search on this feature

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.

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Prominent forehead

MedGen UID:: 373291
•Concept ID:: C1837260
•: Finding

Forward prominence of the entire forehead, due to protrusion of the frontal bone.

See: Feature record | Search on this feature

Midface retrusion

MedGen UID:: 339938
•Concept ID:: C1853242
•: Anatomical Abnormality

Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.

See: Feature record | Search on this feature

Cleft palate

MedGen UID:: 756015
•Concept ID:: C2981150
•: Congenital Abnormality

Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

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Glaucoma

MedGen UID:: 42224
•Concept ID:: C0017601
•: Disease or Syndrome

Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.

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Strabismus

MedGen UID:: 21337
•Concept ID:: C0038379
•: Disease or Syndrome

A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.

See: Feature record | Search on this feature

Cataract

MedGen UID:: 39462
•Concept ID:: C0086543
•: Disease or Syndrome

A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

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Show all Hide all

Abnormality of head or neck
Abnormality of limbs
Abnormality of the eye
Abnormality of the musculoskeletal system
- Malar flattening
Abnormality of the nervous system
- Intellectual disability
- Seizure
Growth abnormality
- Short stature

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVArmfield syndrome

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Armfield syndrome

Follow this link to review classifications for Armfield syndrome in Orphanet.

Recent clinical studies

Etiology

Postoperative complications after tonsillectomy and adenoidectomy in children with Down syndrome.

Goldstein NA, Armfield DR, Kingsley LA, Borland LM, Allen GC, Post JC
Arch Otolaryngol Head Neck Surg 1998 Feb;124(2):171-6. doi: 10.1001/archotol.124.2.171. PMID: 9485108

See all (1)

Diagnosis

Detection of a DNA Methylation Signature for the Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type.

Haghshenas S, Levy MA, Kerkhof J, Aref-Eshghi E, McConkey H, Balci T, Siu VM, Skinner CD, Stevenson RE, Sadikovic B, Schwartz C
Int J Mol Sci 2021 Jan 23;22(3) doi: 10.3390/ijms22031111. PMID: 33498634 Free PMC Article

Armfield DR, Kim DH, Towers JD, Bradley JP, Robertson DD
Clin Sports Med 2006 Oct;25(4):803-42. doi: 10.1016/j.csm.2006.06.011. PMID: 16962427

See all (2)

Prognosis

X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28.

Armfield K, Nelson R, Lubs HA, Häne B, Schroer RJ, Arena F, Schwartz CE, Stevenson RE
Am J Med Genet 1999 Jul 30;85(3):236-42. doi: 10.1002/(sici)1096-8628(19990730)85:3<236::aid-ajmg10>3.0.co;2-9. PMID: 10398235

Postoperative complications after tonsillectomy and adenoidectomy in children with Down syndrome.

Goldstein NA, Armfield DR, Kingsley LA, Borland LM, Allen GC, Post JC
Arch Otolaryngol Head Neck Surg 1998 Feb;124(2):171-6. doi: 10.1001/archotol.124.2.171. PMID: 9485108

See all (2)

Clinical prediction guides

X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28.

Postoperative complications after tonsillectomy and adenoidectomy in children with Down syndrome.

Goldstein NA, Armfield DR, Kingsley LA, Borland LM, Allen GC, Post JC
Arch Otolaryngol Head Neck Surg 1998 Feb;124(2):171-6. doi: 10.1001/archotol.124.2.171. PMID: 9485108

See all (2)

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Links from OMIM

Armfield syndrome(MRXSA)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

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