U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Slender toe

MedGen UID:
866814
Concept ID:
C4021168
Finding
Synonym: Narrow toe
 
HPO: HP:0011308

Definition

Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. [from HPO]

Term Hierarchy

Conditions with this feature

Severe X-linked myotubular myopathy
MedGen UID:
98374
Concept ID:
C0410203
Congenital Abnormality
X-linked myotubular myopathy (X-MTM), also known as myotubular myopathy (MTM), is characterized by muscle weakness that ranges from severe to mild. Approximately 80% of affected males present with severe (classic) X-MTM characterized by polyhydramnios, decreased fetal movement, and neonatal weakness, hypotonia, and respiratory failure. Motor milestones are significantly delayed and most individuals fail to achieve independent ambulation. Weakness is profound and often involves facial and extraocular muscles. Respiratory failure is nearly uniform, with most individuals requiring 24-hour ventilatory assistance. It is estimated that at least 25% of boys with severe X-MTM die in the first year of life, and those who survive rarely live into adulthood. Males with mild or moderate X-MTM (~20%) achieve motor milestones more quickly than males with the severe form; many ambulate independently, and may live into adulthood. Most require gastrostomy tubes and/or ventilator support. In all subtypes of X-MTM, the muscle disease is not obviously progressive. Female carriers of X-MTM are generally asymptomatic, although manifesting heterozygotes are increasingly being identified. In affected females, symptoms range from severe, generalized weakness presenting in childhood, with infantile onset similar to affected male patients, to mild (often asymmetric) weakness manifesting in adulthood. Affected adult females may experience progressive respiratory decline and ultimately require ventilatory support.
Ehlers-Danlos syndrome, spondylodysplastic type, 1
MedGen UID:
1646889
Concept ID:
C4552003
Disease or Syndrome
Ehlers-Danlos syndrome spondylodysplastic type 1 (EDSSPD1) is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing. Significant developmental delay is not a consistent feature (Guo et al., 2013). Genetic Heterogeneity of Ehlers-Danlos Syndrome, Spondylodysplastic Type See EDSSPD2 (615349), caused by mutation in the B3GALT6 gene (615291), and EDSSPD3 (612350), caused by mutation in the SLC39A13 gene (608735).

Recent clinical studies

Etiology

Özandaç Polat S, Yücel AH
J Back Musculoskelet Rehabil 2018;31(6):1119-1129. doi: 10.3233/BMR-170891. PMID: 30010098
Lidove O, Zeller V, Chicheportiche V, Meyssonnier V, Sené T, Godot S, Ziza JM
Joint Bone Spine 2016 Jul;83(4):421-6. Epub 2015 Dec 14 doi: 10.1016/j.jbspin.2015.11.001. PMID: 26697993

Diagnosis

Parmar V, Singh A, Madhudiya R
BMJ Case Rep 2024 Oct 2;17(10) doi: 10.1136/bcr-2024-261755. PMID: 39357918
Fu Y, Zhou Y, Zhang Q, Dong J, Zheng J, Li M, Liu J
Mol Genet Genomic Med 2024 Jan;12(1):e2319. Epub 2023 Nov 27 doi: 10.1002/mgg3.2319. PMID: 38013226Free PMC Article
Lidove O, Zeller V, Chicheportiche V, Meyssonnier V, Sené T, Godot S, Ziza JM
Joint Bone Spine 2016 Jul;83(4):421-6. Epub 2015 Dec 14 doi: 10.1016/j.jbspin.2015.11.001. PMID: 26697993
Ng DK, Chau KW, Black C, Thomas TM, Mak KL, Boxer M
J Paediatr Child Health 1999 Jun;35(3):321-3. doi: 10.1046/j.1440-1754.1999.00355.x. PMID: 10404462

Therapy

Welsmann K, Kvist N, Kobayasi T
Acta Derm Venereol 1983;63(2):143-6. PMID: 6189329
Leighton PC, Evans DG, Wallis SM
Br Med J 1976 Apr 17;1(6015):959. doi: 10.1136/bmj.1.6015.959-b. PMID: 1268504Free PMC Article

Prognosis

Parmar V, Singh A, Madhudiya R
BMJ Case Rep 2024 Oct 2;17(10) doi: 10.1136/bcr-2024-261755. PMID: 39357918
Fu Y, Zhou Y, Zhang Q, Dong J, Zheng J, Li M, Liu J
Mol Genet Genomic Med 2024 Jan;12(1):e2319. Epub 2023 Nov 27 doi: 10.1002/mgg3.2319. PMID: 38013226Free PMC Article
Lidove O, Zeller V, Chicheportiche V, Meyssonnier V, Sené T, Godot S, Ziza JM
Joint Bone Spine 2016 Jul;83(4):421-6. Epub 2015 Dec 14 doi: 10.1016/j.jbspin.2015.11.001. PMID: 26697993
Hoedemaekers YM, De Kleine MJ, Stevens-Kroef MJ, Smeets EE, Schrander-Stumpel CT
Genet Couns 2004;15(3):329-33. PMID: 15521104
Ng DK, Chau KW, Black C, Thomas TM, Mak KL, Boxer M
J Paediatr Child Health 1999 Jun;35(3):321-3. doi: 10.1046/j.1440-1754.1999.00355.x. PMID: 10404462

Clinical prediction guides

Fu Y, Zhou Y, Zhang Q, Dong J, Zheng J, Li M, Liu J
Mol Genet Genomic Med 2024 Jan;12(1):e2319. Epub 2023 Nov 27 doi: 10.1002/mgg3.2319. PMID: 38013226Free PMC Article
Hirai M, Seko T, Ohta T, Matsubara J, Ban I, Shionoya S
Angiology 1984 Jun;35(6):358-65. doi: 10.1177/000331978403500604. PMID: 6731945
Leighton PC, Evans DG, Wallis SM
Br Med J 1976 Apr 17;1(6015):959. doi: 10.1136/bmj.1.6015.959-b. PMID: 1268504Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...