Achondrogenesis, type IB
- Synonyms
- Achondrogenesis Fraccaro type; Achondrogenesis Type 1B
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Sheila Unger
- Andrea Superti-Furga
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (83 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of head or neck
- Flat face
Flat face
- MedGen UID: 342829
- Concept ID: C1853241
- Finding: Finding
Abnormality of head or neck
- Flat face
- Abnormality of limbs
- Micromelia
Micromelia
- MedGen UID: 10031
- Concept ID: C0025995
- Finding: Congenital Abnormality
Abnormality of limbs
- Micromelia
- Abnormality of metabolism/homeostasis
- Edema
Edema
- MedGen UID: 4451
- Concept ID: C0013604
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Edema
- 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
- Hydrops fetalis
Hydrops fetalis
- MedGen UID: 6947
- Concept ID: C0020305
- Finding: Disease or Syndrome
Abnormality of prenatal development or birth
- Polyhydramnios
Polyhydramnios
- MedGen UID: 6936
- Concept ID: C0020224
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Breech presentation
- Abnormality of the digestive system
- Abdominal distention
Abdominal distention
- MedGen UID: 34
- Concept ID: C0000731
- Finding: Finding
Abnormality of the digestive system
- Abdominal distention
- Abnormality of the musculoskeletal system
- Absent or minimally ossified vertebral bodies
Absent or minimally ossified vertebral bodies
- MedGen UID: 371455
- Concept ID: C1832983
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypoplastic ilia
Hypoplastic ilia
- MedGen UID: 348814
- Concept ID: C1861218
- Finding: Finding
Abnormality of the musculoskeletal system
- Inguinal hernia
Inguinal hernia
- MedGen UID: 6817
- Concept ID: C0019294
- Finding: Finding
Abnormality of the musculoskeletal system
- Malar flattening
Malar flattening
- MedGen UID: 347616
- Concept ID: C1858085
- Finding: Finding
Abnormality of the musculoskeletal system
- Narrow chest
Narrow chest
- MedGen UID: 96528
- Concept ID: C0426790
- Finding: Finding
Abnormality of the musculoskeletal system
- Short ribs
Short ribs
- MedGen UID: 98094
- Concept ID: C0426817
- Finding: Finding
Abnormality of the musculoskeletal system
- Umbilical hernia
Umbilical hernia
- MedGen UID: 9232
- Concept ID: C0019322
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Absent or minimally ossified vertebral bodies
- Abnormality of the respiratory system
- Respiratory insufficiency
Respiratory insufficiency
- MedGen UID: 11197
- Concept ID: C0035229
- Finding: Pathologic Function
Abnormality of the respiratory system
- Respiratory insufficiency
- Growth abnormality
- Neonatal short-limb short stature
Neonatal short-limb short stature
- MedGen UID: 337984
- Concept ID: C1850171
- Finding: Finding
Growth abnormality
- Neonatal short-limb short stature
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