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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Campomelic dysplasia


Other Names for this Disease

  • CMD1
  • CMPD
  • CMPD1
  • CMPD1/SRA1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the signs and symptoms of campomelic dysplasia?

Individuals with campomelic dysplasia are typically born with bowing of the long bones in the legs, and they are occasionally born with bowing in the arms. Bowing can cause characteristic skin dimples to form over the curved bone, especially on the lower legs. People with campomelic dysplasia also usually have short legs, dislocated hips, underdeveloped shoulder blades, 11 pairs of ribs instead of 12, bone abnormalities in the neck, and feet that are abnormally rotated (club feet). When affected individuals have features of this disorder but do not have bowed limbs, they are said to have acampomelic campomelic dysplasia. Many people with campomelic dysplasia have external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Approximately 75 percent of affected individuals with a typical male chromosome pattern (46,XY) have ambiguous genitalia or normal female genitalia. Internal reproductive organs may not correspond with the external genitalia; they can be male (testes), female (ovaries), or a combination of the two. Affected individuals have distinctive facial features, including a small chin, prominent eyes, and a flat face. They also have a large head compared to their body size. A particular group of physical features, called Pierre-Robin sequence, is common in people with campomelic dysplasia. Pierre-Robin sequence includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). People with campomelic dysplasia are often born with weakened cartilage that forms the upper respiratory tract. This abnormality, called laryngotracheomalacia, partially blocks the airway and causes difficulty breathing. Laryngotracheomalacia contributes to the poor survival of infants with campomelic dysplasia. Only a few people with campomelic dysplasia survive past infancy. As these individuals age, they may develop an abnormal curvature of the spine (scoliosis) and other spine abnormalities that compress the spinal cord. People with campomelic dysplasia may also have short stature and hearing loss.[1]
Last updated: 12/29/2010

The Human Phenotype Ontology provides the following list of signs and symptoms for Campomelic dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormal vertebral ossification 90%
Abnormality of bone mineral density 90%
Abnormality of the fibula 90%
Abnormality of the hip bone 90%
Abnormality of the ribs 90%
Abnormality of the tibia 90%
Bowing of the long bones 90%
Cleft palate 90%
Laryngomalacia 90%
Macrocephaly 90%
Malar flattening 90%
Micrognathia 90%
Narrow chest 90%
Recurrent fractures 90%
Respiratory insufficiency 90%
Scoliosis 90%
Short neck 90%
Sprengel anomaly 90%
Tracheomalacia 90%
Abnormality of the femur 50%
Hypertelorism 50%
Low-set, posteriorly rotated ears 50%
Male pseudohermaphroditism 50%
Proptosis 50%
Sacrococcygeal pilonidal abnormality 50%
Short stature 50%
Talipes 50%
Abnormality of the sense of smell 7.5%
Abnormality of the upper urinary tract 7.5%
Depressed nasal bridge 7.5%
Hearing impairment 7.5%
Kyphosis 7.5%
Malformation of the heart and great vessels 7.5%
Ventriculomegaly 7.5%
11 pairs of ribs -
Absent sternal ossification -
Anterior tibial bowing -
Apnea -
Autosomal dominant inheritance -
Blepharophimosis -
Cleft palate -
Depressed nasal bridge -
Failure to thrive -
Fibular hypoplasia -
Hearing impairment -
High forehead -
Hip dislocation -
Hydrocephalus -
Hydronephrosis -
Hypertelorism -
Hypoplastic cervical vertebrae -
Hypoplastic iliac wings -
Hypoplastic scapulae -
Kyphoscoliosis -
Low-set ears -
Macrocephaly -
Malformation of the heart and great vessels -
Micrognathia -
Muscular hypotonia -
Neonatal short-limb short stature -
Polyhydramnios -
Poorly ossified cervical vertebrae -
Respiratory distress -
Sex reversal -
Short palpebral fissure -
Shortening of all phalanges of fingers -
Shortening of all phalanges of the toes -
Small face -
Talipes equinovarus -
Thin ribs -
Thoracic hypoplasia -
Tracheobronchomalacia -
Wide anterior fontanel -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Campomelic dysplasia. Genetics Home Reference. May 2009; http://ghr.nlm.nih.gov/condition/campomelic-dysplasia. Accessed 12/29/2010.


Other Names for this Disease
  • CMD1
  • CMPD
  • CMPD1
  • CMPD1/SRA1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.