Smith–Fineman–Myers syndrome

Smith–Fineman–Myers syndrome: Smith–Fineman–Myers syndrome

Classification and external resources

X-linked recessive inheritance

OMIM 309580

DiseasesDB 32665

Smith–Fineman–Myers syndrome (SFMS1), also called X-linked mental retardation-hypotonic facies syndrome 1 (MRXHF1), Carpenter–Waziri syndrome, Chudley–Lowry syndrome, Holmes–Gang syndrome and Juberg–Marsidi syndrome (JMS),^[1] is a rare X-linked recessive^[2] congenital disorder that causes birth defects, including mental retardation. The head is small, narrow, and elongated. Those affected by this illness exhibit dwarfism (are shorter than would be expected) and have deformed chests,^[3] as well as hypogonadism and mild obesity.^[4] It is named for Robert M. Fineman, Gart G. Myers, and Richard D. Smith.^[3]

It is associated with ATRX.

References

^ Online 'Mendelian Inheritance in Man' (OMIM) 309580

^ Saugier-Veber, P.; Abadie, V.; Moncla, A.; Mathieu, M.; Piussan, C.; Turleau, C.; Mattei, J.; Munnich, A. et al. (Jun 1993). "The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21)". American Journal of Human Genetics 52 (6): 1040–1045. PMC 1682258. PMID 8503439. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1682258. edit

^ ^a ^b synd/2227 at Who Named It?

^ "Smith–Fineman–Myers syndrom." on Wrong Diagnosis. Online. November 24, 2009.

v · d · eSex linkage: X-linked disorders

X-linked recessive

Immune
Chronic granulomatous disease (CYBB) · Wiskott–Aldrich syndrome · X-linked severe combined immunodeficiency · X-linked agammaglobulinemia · Hyper-IgM syndrome type 1 · IPEX · X-linked lymphoproliferative disease · Properdin deficiency

Hematologic
Haemophilia A · Haemophilia B · X-linked sideroblastic anemia

Endocrine
Androgen insensitivity syndrome/Kennedy disease · KAL1 Kallmann syndrome · X-linked adrenal hypoplasia congenita

Metabolic

amino acid: Ornithine transcarbamylase deficiency · Oculocerebrorenal syndrome

dyslipidemia: Adrenoleukodystrophy

carbohydrate metabolism: Glucose-6-phosphate dehydrogenase deficiency · Pyruvate dehydrogenase deficiency · Danon disease/glycogen storage disease Type IIb

lipid storage disorder: Fabry's disease

mucopolysaccharidosis: Hunter syndrome

purine-pyrimidine metabolism: Lesch–Nyhan syndrome
mineral: Menkes disease/Occipital horn syndrome

Nervous system

X-Linked mental retardation: Coffin–Lowry syndrome · MASA syndrome · X-linked alpha thalassemia mental retardation syndrome · Siderius X-linked mental retardation syndrome

eye disorders: Color blindness (red and green, but not blue) · Ocular albinism (1) · Norrie disease · Choroideremia
other: Charcot–Marie–Tooth disease (CMTX2-3) · Pelizaeus–Merzbacher disease · SMAX2

Skin and related tissue

Dyskeratosis congenita · Hypohidrotic ectodermal dysplasia (EDA) ·
X-linked ichthyosis · X-linked endothelial corneal dystrophy

Neuromuscular
Becker's muscular dystrophy/Duchenne · Centronuclear myopathy (MTM1) · Conradi–Hünermann syndrome · Emery–Dreifuss muscular dystrophy 1

Urologic
Alport syndrome · Dent's disease · X-linked nephrogenic diabetes insipidus

Bone/tooth
AMELX Amelogenesis imperfecta

No primary system
Barth syndrome · McLeod syndrome · Smith-Fineman-Myers syndrome · Simpson–Golabi–Behmel syndrome · Mohr–Tranebjærg syndrome · Nasodigitoacoustic syndrome

X-linked dominant

X-linked hypophosphatemia · Focal dermal hypoplasia · Fragile X syndrome · Aicardi syndrome · Incontinentia pigmenti · Rett syndrome · CHILD syndrome · Lujan–Fryns syndrome · Orofaciodigital syndrome 1

Categories:
Genetic disorder stubs
Rare diseases
X-linked recessive disorders
Syndromes
Congenital disorders

Smith–Fineman–Myers syndrome
Classification and external resources
X-linked recessive inheritance
OMIM	309580
DiseasesDB	32665

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