GTR Home > Conditions/Phenotypes > Chondrodysplasia punctata 2 X-linked dominant

Disease characteristics

Excerpted from the GeneReview: Congenital Muscular Dystrophy Overview
Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. Muscle weakness typically presents from birth to early infancy. Affected infants typically appear "floppy" with low muscle tone and poor spontaneous movements. Affected children may present with delay or arrest of gross motor development together with joint and/or spinal rigidity. Muscle weakness may improve, worsen, or stabilize in the short term; however, with time progressive weakness and joint contractures, spinal deformities, and respiratory compromise may affect quality of life and life span. The main CMD subtypes, grouped by involved protein function and gene in which causative mutations occur, are laminin alpha-2 (merosin) deficiency (MDC1A), collagen VI-deficient CMD, the dystroglycanopathies (caused by mutations in POMT1, POMT2, FKTN, FKRP, LARGE, POMGNT1, and ISPD), SEPN1-related CMD (previously known as rigid spine syndrome, RSMD1) and LMNA-related CMD (L-CMD). Several less known CMD subtypes have been reported in a limited number of individuals. Cognitive impairment ranging from intellectual disability to mild cognitive delay, structural brain and/or eye abnormalities, and seizures are found almost exclusively in the dystroglycanopathies while white matter abnormalities without major cognitive involvement tend to be seen in the laminin alpha-2-deficient subtype.

Associated genes

Clinical features

Help
  • Alopecia
  • Concave nasal ridge
  • Short stature
  • Short neck
  • Epicanthus
  • Elevated 8-dehydrocholesterol
  • Elevated 8(9)-cholestenol
  • Sparse eyelashes
  • Hemiatrophy
  • Stippled calcification in carpal bones
  • Tarsal stippling
  • Kyphosis
  • Limb undergrowth
  • Flat face
  • Malar flattening
  • Postnatal growth retardation
  • Downslanted palpebral fissures
  • Cataract
  • Glaucoma
  • Nystagmus
  • Bilateral talipes equinovarus
  • Failure to thrive
  • Hydronephrosis
  • Abnormality of the teeth
  • Hearing impairment
  • Abnormality of the pinna
  • Sensorineural hearing impairment
  • Microcornea
  • Ptosis
  • Sparse eyebrow
  • Microphthalmos
  • Optic atrophy
  • Abnormality of the thorax
  • Edema
  • Erythroderma
  • Abnormality of the fingernails
  • Dandy-Walker malformation
  • Polyhydramnios
  • Foot polydactyly
  • Talipes
  • Frontal bossing
  • Intellectual disability, moderate
  • Abnormality of pelvic girdle bone morphology
  • Scoliosis
  • Tracheal stenosis
  • Tracheal calcification
  • Hemivertebrae
  • Patellar dislocation
  • Abnormality of the hip bone
  • Abnormal form of the vertebral bodies
  • Clinodactyly of the 5th finger
  • Congenital ichthyosiform erythroderma
  • Aplasia/Hypoplasia affecting the eye
  • Ichthyosis
  • Aplasia/Hypoplasia of the skin
  • Sparse hair
  • Punctate vertebral calcifications
  • Epiphyseal stippling
  • Cheekbone underdevelopment
  • Abnormality of hair texture
  • Postaxial polydactyly
  • Asymmetric growth
  • Abnormal hair quantity
Show all (63)

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk