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Long clavicles

MedGen UID:
96530
Concept ID:
C0426808
Finding
Synonyms: Elongated clavicles
SNOMED CT: Long clavicle (249687007)
 
HPO: HP:0000890

Conditions with this feature

Pachydermoperiostosis syndrome
MedGen UID:
18210
Concept ID:
C0029411
Disease or Syndrome
Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008). Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic Heterogeneity PHOAR2 (614441) is caused by mutation in the SLCO2A1 gene (601460) on chromosome 3q22.1-q22.2. Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD; 167100).
Multiple pterygium syndrome Escobar type
MedGen UID:
82696
Concept ID:
C0265261
Congenital Abnormality
Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (253290) and nonlethal (Escobar) types.
Fibrochondrogenesis
MedGen UID:
82700
Concept ID:
C0265282
Congenital Abnormality
Fibrochondrogenesis is a severe, autosomal recessive, short-limbed skeletal dysplasia clinically characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. Radiographically, the long bones are short and have broad metaphyseal ends, giving them a dumb-bell shape. The vertebral bodies are flat and, on lateral view, have a distinctive pinched appearance, with a hypoplastic posterior end and a rounded anterior end. The ribs are typically short and wide and have metaphyseal cupping at both ends (summary by Tompson et al., 2010). Genetic Heterogeneity of Fibrochondrogenesis Fibrochondrogenesis-2 (FBCG2; 614524) is caused by mutation in the COL11A2 gene (120290) on chromosome 6p21.3.
Greenberg dysplasia
MedGen UID:
224885
Concept ID:
C1300226
Disease or Syndrome
Greenberg dysplasia, also known as hydrops-ectopic calcification-moth-eaten (HEM) skeletal dysplasia, is a rare autosomal recessive osteochondrodysplasia characterized by gross fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers. It is lethal in utero. Patient fibroblasts show increased levels of cholesta-8,14-dien-3-beta-ol, suggesting a defect of sterol metabolism (summary by Konstantinidou et al., 2008). Heterozygous, or rarely homozygous, mutations in the LBR gene can also cause Pelger-Huet anomaly (PHA; 169400). Oosterwijk et al. (2003) identified 11 reported patients with Pelger-Huet anomaly and homozygosity for mutations in the LBR gene and found that none had skeletal dysplasia, early lethality, congenital abnormalities, or skin abnormalities. They suggested that homozygous LBR mutations result in distinct mild (PHA homozygosity) or severe (Greenberg skeletal dysplasia) phenotypes based on allelic heterogeneity. Herman (2003) reviewed the cholesterol biosynthetic pathway and 6 disorders involving enzyme defects in postsqualene cholesterol biosynthesis: Smith-Lemli-Opitz syndrome (SLOS; 270400), desmosterolosis (602398), X-linked dominant chondrodysplasia punctata (CDPX2; 302960), CHILD syndrome (308050), lathosterolosis (607330), and HEM skeletal dysplasia.
Uniparental disomy, paternal, chromosome 14
MedGen UID:
330856
Concept ID:
C1842466
Disease or Syndrome
Schinzel-Giedion syndrome
MedGen UID:
341423
Concept ID:
C1849294
Disease or Syndrome
Schinzel-Giedion syndrome is a highly recognizable syndrome characterized by severe mental retardation, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, and cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia (summary by Hoischen et al., 2010).
Cousin syndrome
MedGen UID:
342400
Concept ID:
C1850040
Disease or Syndrome
Kenny-Caffey syndrome type 1
MedGen UID:
340923
Concept ID:
C1855648
Disease or Syndrome
Microcephalic osteodysplastic primordial dwarfism type 2
MedGen UID:
347148
Concept ID:
C1859451
Disease or Syndrome
Microcephalic osteodysplastic primordial dwarfism type II is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. It is distinct from Seckel syndrome (see 210600) by more severe growth retardation, radiologic abnormalities, and absent or mild mental retardation (summary by Willems et al., 2010).
Osteodysplastic primordial dwarfism, type 1
MedGen UID:
347149
Concept ID:
C1859452
Congenital Abnormality
Microcephalic osteodysplastic primordial dwarfism type I is a severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular/auditory sensory deficits. Patients often die in early childhood (summary by Pierce and Morse, 2012).
Skeletal dysplasia and progressive central nervous system degeneration, lethal
MedGen UID:
400685
Concept ID:
C1865117
Disease or Syndrome
Phocomelia-ectrodactyly ear malformation deafness and sinus arrhythmia
MedGen UID:
356961
Concept ID:
C1868390
Disease or Syndrome

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