Short stature - pituitary and cerebellar defects - small sella turcica

General Information (adopted from Orphanet):

Synonyms, Signs: PITUITARY HORMONE DEFICIENCY, COMBINED, WITH OR WITHOUT CEREBELLAR DEFECTS
SHORT STATURE, PITUITARY AND CEREBELLAR DEFECTS, AND SMALL SELLA TURCICA
CPHD4
Number of Symptoms 19
OrphanetNr: 85442
OMIM Id: 262700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disease associated with nonacquired combined pituitary hormone deficiency
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0010538) Small sella turcica rare [HPO:skoehler] 3 / 7739
2
 (HPO:0008191) Thyroid agenesis 11 / 7739
3
 (HPO:0000839) Pituitary dwarfism 7 / 7739
4
 (HPO:0000846) Adrenal insufficiency 24 / 7739
5
 (HPO:0000821) Hypothyroidism 141 / 7739
6
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
7
 (HPO:0003799) Marked delay in bone age 5 / 7739
8
 (HPO:0008850) Severe postnatal growth retardation 16 / 7739
9
 (HPO:0004322) Short stature 1232 / 7739
10
 (HPO:0001943) Hypoglycemia 131 / 7739
11
 (OMIM) Low or absent adrenocorticotropic hormone (ACTH) 3 / 7739
12
 (OMIM) Low or absent growth hormone (GH) 5 / 7739
13
 (OMIM) Low or absent luteinizing hormone (LH) 4 / 7739
14
 (OMIM) Low or absent thyroid-stimulating hormone (TSH) 4 / 7739
15
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
16
 (OMIM) Abnormal petrous bone 1 / 7739
17
 (OMIM) Very small sella turcica (some) 1 / 7739
18
 (OMIM) Low or absent follicle stimulating hormone (FSH) 4 / 7739
19
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Machinis et al. (2001) reported a French family in which 2 sibs, born of a consanguineous marriage, were found to have combined pituitary hormone deficiency (CPHD) involving growth hormone (GH; 139250), thyrotropin (TSH; 188540) and adrenocorticotropic hormone (ACTH; ...
Molecular genetics OMIM In 4 affected members over 3 generations of a French family with combined pituitary hormone deficiency, who displayed short stature, pituitary and cerebellar defects, and abnormalities of the sella turcica of the central skull base, Machinis et al. ...