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Limited shoulder movement

MedGen UID:
341979
Concept ID:
C1851313
Finding
HPO: HP:0006467

Definition

A limitation of the range of movement of the shoulder joint. [from HPO]

Term Hierarchy

Conditions with this feature

Alkaptonuria
MedGen UID:
1413
Concept ID:
C0002066
Disease or Syndrome
Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway. The three major features of alkaptonuria are dark urine or urine that turns dark on standing, ochronosis (bluish-black pigmentation in connective tissue), and arthritis of the spine and larger joints. Ochronosis generally occurs after age 30 years; arthritis often begins in the third decade. Other manifestations can include pigment in the sclera, ear cartilage, and skin of the hands; aortic or mitral valve calcification or regurgitation and occasionally aortic dilatation; renal stones; prostate stones; and hypothyroidism.
Femoral hypoplasia - unusual facies syndrome
MedGen UID:
120523
Concept ID:
C0265263
Disease or Syndrome
Femoral-facial syndrome (FFS), also known as femoral hypoplasia-unusual facies syndrome (FHUFS), is a rare and sporadic multiple congenital anomaly syndrome comprising bilateral femoral hypoplasia and characteristic facial features, such as long philtrum, thin upper lip, micrognathia with or without cleft palate, upward-slanting palpebral fissures, and a short nose with broad tip. Other features, such as renal anomalies, are more variable (summary by Nowaczyk et al., 2010).
Baller-Gerold syndrome
MedGen UID:
120532
Concept ID:
C0265308
Disease or Syndrome
Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combination. Upper limb abnormality can include a combination of thumb hypo- or aplasia and radial hypo- or aplasia and may be asymmetric. Malformation or absence of carpal or metacarpal bones has also been described. Skin lesions may appear anytime within the first few years after birth, typically beginning with erythema of the face and extremities and evolving into poikiloderma. Slow growth is apparent in infancy with eventual height and length typically at 4 SD below the mean.
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
MedGen UID:
98378
Concept ID:
C0410538
Congenital Abnormality
Pseudoachondroplasia is characterized by normal length at birth and normal facies. Often the presenting feature is a waddling gait, recognized at the onset of walking. Typically, the growth rate falls below the standard growth curve by approximately age two years, leading to a moderately severe form of disproportionate short-limb short stature. Joint pain during childhood, particularly in the large joints of the lower extremities, is common. Degenerative joint disease is progressive; approximately 50% of individuals with pseudoachondroplasia eventually require hip replacement surgery.
Stiff skin syndrome
MedGen UID:
348877
Concept ID:
C1861456
Disease or Syndrome
Stiff skin syndrome (SSKS) is characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include lipodystrophy and muscle weakness (Loeys et al., 2010). Patients with similar phenotypes involving stiff skin have been described; see, e.g., familial progressive scleroderma (181750), symmetric lipomatosis (151800), and congenital fascial dystrophy (228020).
Distal arthrogryposis type 5D
MedGen UID:
767329
Concept ID:
C3554415
Disease or Syndrome
This autosomal recessive form of distal arthrogryposis, designated DA5D by McMillin et al. (2013), is characterized by severe camptodactyly of the hands, including adducted thumbs and wrists; mild camptodactyly of the toes; clubfoot and/or a calcaneovalgus deformity; extension contractures of the knee; unilateral ptosis or ptosis that is more severe on one side; a round-shaped face; arched eyebrows; a bulbous, upturned nose; and micrognathia. Notably, these patients do not have ophthalmoplegia. For a general phenotypic description and discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (108120). For discussion of genetic heterogeneity of distal arthrogryposis type 5, see DA5 (108145).
Wieacker-Wolff syndrome, female-restricted
MedGen UID:
1715791
Concept ID:
C5393303
Disease or Syndrome
Female-restricted Wieacker-Wolff syndrome (WRWFFR) is an X-linked dominant syndromic form of neurogenic arthrogryposis multiplex congenita (AMC) with central and peripheral nervous system involvement. Affected individuals have decreased fetal movements causing the development of contractures in utero and resulting in AMC and diffuse contractures involving the large and small joints apparent at birth. There is global developmental delay with difficulty walking or inability to walk, hypotonia that often evolves to spasticity, and variably impaired intellectual development with poor or absent speech and language. Dysmorphic facial features, including hypotonic facies, ptosis, microretrognathia, and small mouth, are seen in most patients. Seizures are uncommon; some patients have evidence of a peripheral motor neuropathy with distal muscle weakness. The level of X inactivation in lymphocytes and fibroblasts is often skewed, but may not predict the severity of the phenotype. Most cases occur sporadically; rare X-linked dominant inheritance has been reported in families (summary by Frints et al., 2019).
Rhizomelic limb shortening with dysmorphic features
MedGen UID:
1720321
Concept ID:
C5394173
Disease or Syndrome
Rhizomelic limb shortening with dysmorphic features (RLSDF) is characterized by rhizomelic shortening of the extremities, predominantly of the upper limbs, and variable dysmorphic features, including macrocephaly, prominent forehead, hypertelorism, depressed or broad nasal bridge, and micrognathia. Hearing loss has also been observed (Sajan et al., 2019; Pagnamenta et al., 2023).

Professional guidelines

PubMed

Fanciulli A, Leys F, Falup-Pecurariu C, Thijs R, Wenning GK
J Parkinsons Dis 2020;10(s1):S57-S64. doi: 10.3233/JPD-202036. PMID: 32716319Free PMC Article
Braun C, McRobert CJ
Cochrane Database Syst Rev 2019 May 10;5(5):CD004962. doi: 10.1002/14651858.CD004962.pub4. PMID: 31074847Free PMC Article
Maund E, Craig D, Suekarran S, Neilson A, Wright K, Brealey S, Dennis L, Goodchild L, Hanchard N, Rangan A, Richardson G, Robertson J, McDaid C
Health Technol Assess 2012;16(11):1-264. doi: 10.3310/hta16110. PMID: 22405512Free PMC Article

Recent clinical studies

Etiology

Proesmans M, Vreys M, Huenaerts E, Haest E, Coremans S, Vermeulen F, Feys H
Pediatr Pulmonol 2015 Oct;50(10):1033-8. Epub 2014 Oct 18 doi: 10.1002/ppul.23114. PMID: 25327770
Namdari S, Alosh H, Baldwin K, Mehta S, Keenan MA
J Shoulder Elbow Surg 2012 May;21(5):691-8. Epub 2011 Jun 29 doi: 10.1016/j.jse.2011.03.026. PMID: 21719314
Hase K, Kamisako M, Fujiwara T, Tsuji T, Liu M
Arch Phys Med Rehabil 2006 Dec;87(12):1618-22. doi: 10.1016/j.apmr.2006.08.339. PMID: 17141642

Diagnosis

Braut T, Maršić M, Ravlić I, Maržić D, Marijić B, Malvić G, Vrebac I, Velepič M
Medicine (Baltimore) 2021 Oct 29;100(43):e27618. doi: 10.1097/MD.0000000000027618. PMID: 34713846Free PMC Article
Wu J, Li L, Wang F, Lu S, Liu F, Jia H, Yang Y, Wang F, Hao Z, Xu S, Wang B
Medicine (Baltimore) 2020 Sep 4;99(36):e22088. doi: 10.1097/MD.0000000000022088. PMID: 32899086Free PMC Article
Dhir R, Chin K, Lambert S
J Shoulder Elbow Surg 2018 Feb;27(2):252-259. Epub 2017 Sep 28 doi: 10.1016/j.jse.2017.08.011. PMID: 28964675

Therapy

Hase K, Kamisako M, Fujiwara T, Tsuji T, Liu M
Arch Phys Med Rehabil 2006 Dec;87(12):1618-22. doi: 10.1016/j.apmr.2006.08.339. PMID: 17141642

Prognosis

Namdari S, Alosh H, Baldwin K, Mehta S, Keenan MA
J Shoulder Elbow Surg 2012 May;21(5):691-8. Epub 2011 Jun 29 doi: 10.1016/j.jse.2011.03.026. PMID: 21719314

Clinical prediction guides

Zuo J, Chen C, Guo J, Lin J, You T, Chen P, Li C, Li W
BMC Surg 2023 Dec 13;23(1):379. doi: 10.1186/s12893-023-02157-6. PMID: 38093270Free PMC Article
Braut T, Maršić M, Ravlić I, Maržić D, Marijić B, Malvić G, Vrebac I, Velepič M
Medicine (Baltimore) 2021 Oct 29;100(43):e27618. doi: 10.1097/MD.0000000000027618. PMID: 34713846Free PMC Article
Dhir R, Chin K, Lambert S
J Shoulder Elbow Surg 2018 Feb;27(2):252-259. Epub 2017 Sep 28 doi: 10.1016/j.jse.2017.08.011. PMID: 28964675
Namdari S, Alosh H, Baldwin K, Mehta S, Keenan MA
J Shoulder Elbow Surg 2012 May;21(5):691-8. Epub 2011 Jun 29 doi: 10.1016/j.jse.2011.03.026. PMID: 21719314
Hase K, Kamisako M, Fujiwara T, Tsuji T, Liu M
Arch Phys Med Rehabil 2006 Dec;87(12):1618-22. doi: 10.1016/j.apmr.2006.08.339. PMID: 17141642

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