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Upper limb undergrowth

MedGen UID:
324789
Concept ID:
C1837406
Finding
Synonym: Shortening of the arms
 
HPO: HP:0009824

Definition

Arm shortening because of underdevelopment of one or more bones of the upper extremity. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Upper limb undergrowth

Conditions with this feature

Pelger-Huët anomaly
MedGen UID:
10617
Concept ID:
C0030779
Disease or Syndrome
An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.
Holt-Oram syndrome
MedGen UID:
120524
Concept ID:
C0265264
Disease or Syndrome
Holt-Oram syndrome (HOS) is characterized by upper-limb defects, congenital heart malformation, and cardiac conduction disease. Upper-limb malformations may be unilateral, bilateral/symmetric, or bilateral/asymmetric and can range from triphalangeal or absent thumb(s) to phocomelia. Other upper-limb malformations can include unequal arm length caused by aplasia or hypoplasia of the radius, fusion or anomalous development of the carpal and thenar bones, abnormal forearm pronation and supination, abnormal opposition of the thumb, sloping shoulders, and restriction of shoulder joint movement. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. A congenital heart malformation is present in 75% of individuals with HOS and most commonly involves the septum. Atrial septal defect and ventricular septal defect can vary in number, size, and location. Complex congenital heart malformations can also occur in individuals with HOS. Individuals with HOS with or without a congenital heart malformation are at risk for cardiac conduction disease. While individuals may present at birth with sinus bradycardia and first-degree atrioventricular (AV) block, AV block can progress unpredictably to a higher grade including complete heart block with and without atrial fibrillation.
Autosomal recessive spondyloepimetaphyseal dysplasia
MedGen UID:
98476
Concept ID:
C0432213
Disease or Syndrome
Syndrome with characteristics of disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. The syndrome has been described among Venezuelan Indians of the Yukpa (Irapa) tribe and three siblings from a Mexican mestizo family. Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified.
Oculootoradial syndrome
MedGen UID:
233003
Concept ID:
C1327918
Disease or Syndrome
IVIC syndrome (IVIC) is an autosomal dominant disorder characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral nonprogressive mixed hearing loss. More variable features include heart involvement, mild thrombocytopenia and leukocytosis (before age 50), shoulder girdle hypoplasia, imperforate anus, kidney malrotation, and rectovaginal fistula (summary by Paradisi and Arias, 2007).
Congenital disorder of glycosylation type 1E
MedGen UID:
324784
Concept ID:
C1837396
Disease or Syndrome
Congenital disorders of glycosylation (CDGs) are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. Different forms of CDGs can be recognized by altered isoelectric focusing (IEF) patterns of serum transferrin. For a general discussion of CDGs, see CDG Ia (212065) and CDG Ib (602579).
Hydrolethalus syndrome 1
MedGen UID:
343455
Concept ID:
C1856016
Disease or Syndrome
Hydrolethalus-1 (HLS1) is an autosomal recessive lethal malformation syndrome characterized by hydrocephaly with absent upper midline structures of the brain, micrognathia, and polydactyly. Various other features such as cleft lip or palate, club feet, anomalies of the ears, eyes, and nose, keyhole-shaped defect in the occipital bone, abnormal genitalia, and congenital heart and respiratory organ defects have also been observed in affected individuals. Affected individuals are stillborn or die shortly after birth (summary by Mee et al., 2005). Genetic Heterogeneity of Hydrolethalus Syndrome See also HLS2 (614120), caused by mutation in the KIF7 gene (611254) on chromosome 15q26.
Cocoon syndrome
MedGen UID:
462241
Concept ID:
C3150891
Disease or Syndrome
A rare lethal developmental defect during embryogenesis with characteristics of severe fetal malformations. These malformations include craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile hypoplastic limbs encased under an abnormal, transparent membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horseshoe kidneys, diaphragm and lung lobulation defects is reported.
Chromosome 17q12 deletion syndrome
MedGen UID:
482768
Concept ID:
C3281138
Disease or Syndrome
The 17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder, schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural and functional kidney anomalies occur in 85% to 90% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: age 10-50 years).
Hydrops fetalis, nonimmune, with gracile bones and dysmorphic features
MedGen UID:
1677588
Concept ID:
C5193233
Disease or Syndrome

Recent clinical studies

Etiology

Harkin WE, Pennock AT, Bastrom TP, Edmonds EW
Clin Orthop Relat Res 2021 Mar 1;479(3):623-631. doi: 10.1097/CORR.0000000000001468. PMID: 33534261Free PMC Article
Ekblom AG, Laurell T, Arner M
J Hand Surg Am 2010 Nov;35(11):1742-54. Epub 2010 Oct 20 doi: 10.1016/j.jhsa.2010.07.007. PMID: 20961708
Enjolras O, Ciabrini D, Mazoyer E, Laurian C, Herbreteau D
J Am Acad Dermatol 1997 Feb;36(2 Pt 1):219-25. doi: 10.1016/s0190-9622(97)70284-6. PMID: 9039172
Friedman RJ, Jupiter JB
Clin Orthop Relat Res 1984 Sep;(188):112-9. PMID: 6467707

Diagnosis

Koskimies E, Lindfors N, Gissler M, Peltonen J, Nietosvaara Y
J Hand Surg Am 2011 Jun;36(6):1058-65. Epub 2011 May 23 doi: 10.1016/j.jhsa.2011.03.015. PMID: 21601997
Ekblom AG, Laurell T, Arner M
J Hand Surg Am 2010 Nov;35(11):1742-54. Epub 2010 Oct 20 doi: 10.1016/j.jhsa.2010.07.007. PMID: 20961708
Bates SJ, Hansen SL, Jones NF
Plast Reconstr Surg 2009 Jul;124(1 Suppl):128e-143e. doi: 10.1097/PRS.0b013e3181a80777. PMID: 19568146
Enjolras O, Ciabrini D, Mazoyer E, Laurian C, Herbreteau D
J Am Acad Dermatol 1997 Feb;36(2 Pt 1):219-25. doi: 10.1016/s0190-9622(97)70284-6. PMID: 9039172
Friedman RJ, Jupiter JB
Clin Orthop Relat Res 1984 Sep;(188):112-9. PMID: 6467707

Prognosis

Harkin WE, Pennock AT, Bastrom TP, Edmonds EW
Clin Orthop Relat Res 2021 Mar 1;479(3):623-631. doi: 10.1097/CORR.0000000000001468. PMID: 33534261Free PMC Article
Ekblom AG, Laurell T, Arner M
J Hand Surg Am 2010 Nov;35(11):1742-54. Epub 2010 Oct 20 doi: 10.1016/j.jhsa.2010.07.007. PMID: 20961708
Enjolras O, Ciabrini D, Mazoyer E, Laurian C, Herbreteau D
J Am Acad Dermatol 1997 Feb;36(2 Pt 1):219-25. doi: 10.1016/s0190-9622(97)70284-6. PMID: 9039172
Friedman RJ, Jupiter JB
Clin Orthop Relat Res 1984 Sep;(188):112-9. PMID: 6467707

Clinical prediction guides

Enjolras O, Ciabrini D, Mazoyer E, Laurian C, Herbreteau D
J Am Acad Dermatol 1997 Feb;36(2 Pt 1):219-25. doi: 10.1016/s0190-9622(97)70284-6. PMID: 9039172

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