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Results: 2

1.

Central core disease

Central core disease (CCD) is characterized by muscle weakness ranging from mild to severe. Most affected individuals have mild disease with symmetric proximal muscle weakness and variable involvement of facial and neck muscles. The extraocular muscles are often spared. Motor development is usually delayed, but in general, most affected individuals acquire independent ambulation. Life span is usually normal. Severe disease is early in onset with profound hypotonia often accompanied by poor fetal movement, spinal deformities, hip dislocation, joint contractures, poor suck, and respiratory insufficiency requiring assisted ventilation. The outcome ranges from death in infancy to survival beyond age five years. Typically the weakness in CCD is not progressive. [from GeneReviews]

MedGen UID:
199773
Concept ID:
C0751951
Disease or Syndrome
2.

Cleidocranial dysostosis

Cleidocranial dysplasia (referred to as CCD in this review) is a skeletal dysplasia characterized by delayed closure of the cranial sutures, hypoplastic or aplastic clavicles, and multiple dental abnormalities. Manifestations may vary among individuals in the same family. The most prominent clinical findings are abnormally large, wide-open fontanels at birth that may remain open throughout life; mid-face retrusion; abnormal dentition, including delayed eruption of secondary dentition, failure to shed the primary teeth, supernumerary teeth with dental crowding, and malocclusion; clavicular hypoplasia resulting in narrow, sloping shoulders that can be apposed at the midline; and hand abnormalities such as brachydactyly, tapering fingers, and short, broad thumbs. Individuals with CCD are shorter than their unaffected sibs and are more likely to have other skeletal/orthopedic problems such as pes planus, genu valgum, and scoliosis. Other medical problems include recurrent sinus infections and other upper-airway complications, recurrent ear infections, high incidence of cesarean section, and mild degree of motor delay in children under age five years. [from GeneReviews]

MedGen UID:
3486
Concept ID:
C0008928
Disease or Syndrome

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