Ateleiotic dwarfism
- Synonyms
- Growth hormone deficiency, isolated autosomal recessive; IGHD IA; ILLIG type growth hormone deficiency; Isolated Growth Hormone Deficiency, Type IA; Isolated growth hormone deficiency type 1A; PITUITARY DWARFISM I; Pituitary dwarfism 1; Sexual ateleiotic dwarfism
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of head or neck
- Depressed nasal ridge
Depressed nasal ridge
- MedGen UID: 334631
- Concept ID: C1842876
- Finding: Finding
Abnormality of head or neck
- High forehead
High forehead
- MedGen UID: 65991
- Concept ID: C0239676
- Finding: Finding
Abnormality of head or neck
- Depressed nasal ridge
- Abnormality of metabolism/homeostasis
- Hypoglycemia
Hypoglycemia
- MedGen UID: 6979
- Concept ID: C0020615
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypoglycemia
- Abnormality of the digestive system
- Prolonged neonatal jaundice
Prolonged neonatal jaundice
- MedGen UID: 347108
- Concept ID: C1859236
- Finding: Finding
Abnormality of the digestive system
- Prolonged neonatal jaundice
- Abnormality of the endocrine system
- Decreased serum insulin-like growth factor 1
Decreased serum insulin-like growth factor 1
- MedGen UID: 892792
- Concept ID: C4072897
- Finding: Finding
Abnormality of the endocrine system
- Reduced circulating growth hormone concentration
Reduced circulating growth hormone concentration
- MedGen UID: 1815075
- Concept ID: C5706169
- Finding: Finding
Abnormality of the endocrine system
- Decreased serum insulin-like growth factor 1
- Abnormality of the musculoskeletal system
- Persistent open anterior fontanelle
Persistent open anterior fontanelle
- MedGen UID: 376607
- Concept ID: C1849537
- Finding: Finding
Abnormality of the musculoskeletal system
- Persistent open anterior fontanelle
- Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Severe short stature
Severe short stature
- MedGen UID: 3931
- Concept ID: C0013336
- Finding: Disease or Syndrome
Growth abnormality
- Growth delay
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