Metaphyseal chondrodysplasia, McKusick type
- Synonyms
- Cartilage-Hair Hypoplasia
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Outi Mäkitie
- Svetlana Vakkilainen
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (82 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Anemia
Anemia
- MedGen UID: 1526
- Concept ID: C0002871
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Diamond-Blackfan anemia
Diamond-Blackfan anemia
- MedGen UID: 266045
- Concept ID: C1260899
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Macrocytic anemia
Macrocytic anemia
- MedGen UID: 1920
- Concept ID: C0002886
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Anemia
- Abnormality of head or neck
- Sparse eyebrow
Sparse eyebrow
- MedGen UID: 371332
- Concept ID: C1832446
- Finding: Finding
Abnormality of head or neck
- Sparse eyebrow
- Abnormality of limbs
- Coxa vara
Coxa vara
- MedGen UID: 1790477
- Concept ID: C5551440
- Finding: Anatomical Abnormality
Abnormality of limbs
- Limited elbow extension
Limited elbow extension
- MedGen UID: 401158
- Concept ID: C1867103
- Finding: Finding
Abnormality of limbs
- Short palm
Short palm
- MedGen UID: 334684
- Concept ID: C1843108
- Finding: Finding
Abnormality of limbs
- Coxa vara
- Abnormality of prenatal development or birth
- Breech presentation
Breech presentation
- MedGen UID: 654
- Concept ID: C0006157
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Breech presentation
- Abnormality of the digestive system
- Aganglionic megacolon
Aganglionic megacolon
- MedGen UID: 5559
- Concept ID: C0019569
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Anal stenosis
Anal stenosis
- MedGen UID: 82644
- Concept ID: C0262374
- Finding: Anatomical Abnormality
Abnormality of the digestive system
- Constipation
Constipation
- MedGen UID: 1101
- Concept ID: C0009806
- Finding: Sign or Symptom
Abnormality of the digestive system
- Esophageal atresia
Esophageal atresia
- MedGen UID: 4545
- Concept ID: C0014850
- Finding: Congenital Abnormality
Abnormality of the digestive system
- Malabsorption
Malabsorption
- MedGen UID: 811453
- Concept ID: C3714745
- Finding: Finding
Abnormality of the digestive system
- Aganglionic megacolon
- Abnormality of the immune system
- Cellular immunodeficiency
Cellular immunodeficiency
- MedGen UID: 344444
- Concept ID: C1855204
- Finding: Finding
Abnormality of the immune system
- Impaired lymphocyte transformation with phytohemagglutinin
Impaired lymphocyte transformation with phytohemagglutinin
- MedGen UID: 871152
- Concept ID: C4025625
- Finding: Finding
Abnormality of the immune system
- Lymphopenia
Lymphopenia
- MedGen UID: 7418
- Concept ID: C0024312
- Finding: Disease or Syndrome
Abnormality of the immune system
- Neutropenia
Neutropenia
- MedGen UID: 163121
- Concept ID: C0853697
- Finding: Finding
Abnormality of the immune system
- Recurrent infections
Recurrent infections
- MedGen UID: 65998
- Concept ID: C0239998
- Finding: Finding
Abnormality of the immune system
- Susceptibility to chickenpox
Susceptibility to chickenpox
- MedGen UID: 381583
- Concept ID: C1855205
- Finding: Finding
Abnormality of the immune system
- Cellular immunodeficiency
- Abnormality of the integument
- Fair hair
Fair hair
- MedGen UID: 336542
- Concept ID: C1849221
- Finding: Finding
Abnormality of the integument
- Fine hair
Fine hair
- MedGen UID: 98401
- Concept ID: C0423867
- Finding: Finding
Abnormality of the integument
- Sparse eyelashes
Sparse eyelashes
- MedGen UID: 375151
- Concept ID: C1843300
- Finding: Finding
Abnormality of the integument
- Sparse facial hair
Sparse facial hair
- MedGen UID: 488981
- Concept ID: C2017869
- Finding: Finding
Abnormality of the integument
- Sparse hair
Sparse hair
- MedGen UID: 1790211
- Concept ID: C5551005
- Finding: Finding
Abnormality of the integument
- Fair hair
- Abnormality of the musculoskeletal system
- Abnormal pelvic girdle bone morphology
Abnormal pelvic girdle bone morphology
- MedGen UID: 866545
- Concept ID: C4020847
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Asymmetry of the thorax
Asymmetry of the thorax
- MedGen UID: 387970
- Concept ID: C1858033
- Finding: Finding
Abnormality of the musculoskeletal system
- Brachycephaly
Brachycephaly
- MedGen UID: 113165
- Concept ID: C0221356
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Femoral bowing
Femoral bowing
- MedGen UID: 347888
- Concept ID: C1859461
- Finding: Finding
Abnormality of the musculoskeletal system
- Flaring of lower rib cage
Flaring of lower rib cage
- MedGen UID: 381581
- Concept ID: C1855196
- Finding: Finding
Abnormality of the musculoskeletal system
- Joint hypermobility
Joint hypermobility
- MedGen UID: 336793
- Concept ID: C1844820
- Finding: Finding
Abnormality of the musculoskeletal system
- Lumbar hyperlordosis
Lumbar hyperlordosis
- MedGen UID: 263149
- Concept ID: C1184923
- Finding: Finding
Abnormality of the musculoskeletal system
- Metaphyseal cupping
Metaphyseal cupping
- MedGen UID: 323062
- Concept ID: C1837082
- Finding: Finding
Abnormality of the musculoskeletal system
- Metaphyseal dysplasia
Metaphyseal dysplasia
- MedGen UID: 1677924
- Concept ID: C5194606
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Metaphyseal widening
Metaphyseal widening
- MedGen UID: 341364
- Concept ID: C1849039
- Finding: Finding
Abnormality of the musculoskeletal system
- Narrow chest
Narrow chest
- MedGen UID: 96528
- Concept ID: C0426790
- Finding: Finding
Abnormality of the musculoskeletal system
- Narrow vertebral interpedicular distance
Narrow vertebral interpedicular distance
- MedGen UID: 318662
- Concept ID: C1832598
- Finding: Finding
Abnormality of the musculoskeletal system
- Odontoid hypoplasia
Odontoid hypoplasia
- MedGen UID: 339524
- Concept ID: C1846439
- Finding: Finding
Abnormality of the musculoskeletal system
- Prominent sternum
Prominent sternum
- MedGen UID: 337578
- Concept ID: C1846433
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Abnormal pelvic girdle bone morphology
- Growth abnormality
- Absent pubertal growth spurt
Absent pubertal growth spurt
- MedGen UID: 1373047
- Concept ID: C4476965
- Finding: Finding
Growth abnormality
- Neonatal short-limb short stature
Neonatal short-limb short stature
- MedGen UID: 337984
- Concept ID: C1850171
- Finding: Finding
Growth abnormality
- Absent pubertal growth spurt
- Neoplasm
- Lymphoma
Lymphoma
- MedGen UID: 44223
- Concept ID: C0024299
- Finding: Neoplastic Process
Neoplasm
- Skin basal cell carcinoma
Skin basal cell carcinoma
- MedGen UID: 1648304
- Concept ID: C4721806
- Finding: Neoplastic Process
Neoplasm
- Lymphoma
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