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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
2 associated genes
15 signs/symptoms
Short stature - pituitary and cerebellar defects - small sella turcica
Pituitary stalk interruption syndrome

LHX4 HESX1
LHX4


COMMON
GENES
LHX4



Citations in the biomedical literature:


Short stature - pituitary and cerebellar defects - small sella turcica
LHX4
Pituitary stalk interruption syndrome
HESX1



Short stature - pituitary and cerebellar defects - small sella turcica
Pituitary stalk interruption syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Ectopic neurohypophysis
- PSIS

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: before age 5
Type of inheritance: sporadic

External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references

Pituitary stalk interruption syndrome

Very frequent
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies
- Short stature / dwarfism / nanism

Frequent
- Hypoglycemia
- Hypothyroidy
- Late puberty / hypogonadism / hypogenitalism
- Micropenis / small penis / agenesis

Occasional
- Cortico-adrenal hypoplasia / insufficiency
- Death in infancy
- Diabetes insipidus
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Primary amenorrhea
- Seizures / epilepsy / absences / spasms / status epilepticus
- Septo-optic dysplasia
- Undescended / ectopic testes / cryptorchidia / unfixed testes


Short stature - pituitary and cerebellar defects - small sella turcica

(no data available)