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Short 5th toe

MedGen UID:
866760
Concept ID:
C4021111
Anatomical Abnormality
Synonym: Short fifth toes
 
HPO: HP:0011917

Definition

Underdevelopment (hypoplasia) of the fifth toe. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVShort 5th toe

Conditions with this feature

Ulnar-mammary syndrome
MedGen UID:
357886
Concept ID:
C1866994
Disease or Syndrome
Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996).
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
MedGen UID:
462291
Concept ID:
C3150941
Disease or Syndrome
Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation.
Adams-Oliver syndrome 3
MedGen UID:
766662
Concept ID:
C3553748
Disease or Syndrome
Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). ACC lesions usually occur in the midline of the parietal or occipital regions, but can also occur on the abdomen or limbs. At birth, an ACC lesion may already have the appearance of a healed scar. ACC lesions less than 5 cm often involve only the skin and almost always heal over a period of months; larger lesions are more likely to involve the skull and possibly the dura, and are at greater risk for complications, which can include infection, hemorrhage, or thrombosis, and can result in death. The limb defects range from mild (unilateral or bilateral short distal phalanges) to severe (complete absence of all toes or fingers, feet or hands, or more, often resembling an amputation). The lower extremities are almost always more severely affected than the upper extremities. Additional major features frequently include cardiovascular malformations/dysfunction (23%), brain anomalies, and less frequently renal, liver, and eye anomalies.
Mitochondrial complex 4 deficiency, nuclear type 16
MedGen UID:
1762514
Concept ID:
C5436714
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 16 (MC4DN16) is an autosomal recessive metabolic disorder with highly variable manifestations. Common features include failure to thrive with poor overall growth, short stature, and microcephaly. Some patients additionally have neurologic involvement, including developmental regression with severe hypotonia, feeding difficulties, and seizures. Brain imaging in the more severely affected patients shows cerebral and cerebellar atrophy and abnormal lesions in the basal ganglia. In all cases, patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV (summary by Pillai et al., 2019). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.

Recent clinical studies

Etiology

Ricks CB, Masand R, Fang P, Roney EK, Cheung SW, Scott DA
Am J Med Genet A 2010 Feb;152A(2):453-8. doi: 10.1002/ajmg.a.33227. PMID: 20101693

Diagnosis

Kleyner R, Malcolmson J, Tegay D, Ward K, Maughan A, Maughan G, Nelson L, Wang K, Robison R, Lyon GJ
Cold Spring Harb Mol Case Stud 2016 Nov;2(6):a001131. doi: 10.1101/mcs.a001131. PMID: 27900361Free PMC Article
De Francesco S, Galluzzi P, Del Longo A, Piozzi E, Renieri A, Menicacci C, Mari F, Munier F, Hadjistilianou T, Mastrangelo D
Eur J Ophthalmol 2012 Sep-Oct;22(5):857-60. doi: 10.5301/ejo.5000151. PMID: 22505049
Ravel A, Chouery E, Stora S, Jalkh N, Villard L, Temtamy S, Mégarbané A
Am J Med Genet A 2011 Apr;155A(4):880-4. Epub 2011 Mar 17 doi: 10.1002/ajmg.a.33879. PMID: 21416592
Neziri AY, Scaramozzino P, Andersen OK, Dickenson AH, Arendt-Nielsen L, Curatolo M
Eur J Pain 2011 Apr;15(4):376-83. Epub 2010 Oct 6 doi: 10.1016/j.ejpain.2010.08.011. PMID: 20932788
Ounap K, Justus I, Lipping-Sitska M
Clin Dysmorphol 1998 Jan;7(1):45-50. PMID: 9546830

Therapy

Nahas MR, Gawish HM, Tarshoby MM, State OI, Aboelyazid A
J Wound Care 2011 Oct;20(10):473-7. doi: 10.12968/jowc.2011.20.10.473. PMID: 22067885
Neziri AY, Scaramozzino P, Andersen OK, Dickenson AH, Arendt-Nielsen L, Curatolo M
Eur J Pain 2011 Apr;15(4):376-83. Epub 2010 Oct 6 doi: 10.1016/j.ejpain.2010.08.011. PMID: 20932788
Sobreira N, Cernach M, Batista D, Brunoni D, Perez A
Am J Med Genet A 2009 Dec;149A(12):2843-8. doi: 10.1002/ajmg.a.33125. PMID: 19938091

Prognosis

Kleyner R, Malcolmson J, Tegay D, Ward K, Maughan A, Maughan G, Nelson L, Wang K, Robison R, Lyon GJ
Cold Spring Harb Mol Case Stud 2016 Nov;2(6):a001131. doi: 10.1101/mcs.a001131. PMID: 27900361Free PMC Article
Brémond-Gignac D, Copin H, Kohler C, Le Pesteur J, Cussenot O, Lassau JP
Surg Radiol Anat 2001 Sep;23(5):325-9. doi: 10.1007/s00276-001-0325-2. PMID: 11824132

Clinical prediction guides

Kleyner R, Malcolmson J, Tegay D, Ward K, Maughan A, Maughan G, Nelson L, Wang K, Robison R, Lyon GJ
Cold Spring Harb Mol Case Stud 2016 Nov;2(6):a001131. doi: 10.1101/mcs.a001131. PMID: 27900361Free PMC Article
Pezzani L, Milani D, Manzoni F, Baccarin M, Silipigni R, Guerneri S, Esposito S
Ital J Pediatr 2015 Apr 10;41:31. doi: 10.1186/s13052-015-0137-3. PMID: 25881986Free PMC Article
Seven M, Yuksel A, Ozkilic A
Genet Couns 2001;12(1):77-83. PMID: 11332981

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