Short stature due to growth hormone qualitative anomaly

General Information (adopted from Orphanet):

Synonyms, Signs: PITUITARY DWARFISM WITH NORMAL IMMUNOREACTIVE GROWTH HORMONE AND LOW SOMATOMEDIN
BIODEFECTIVE GROWTH HORMONE
Kowarski syndrome
Number of Symptoms 9
OrphanetNr: 629
OMIM Id: 262650
ICD-10: E23.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Non-acquired isolated growth hormone deficiency
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000839) Pituitary dwarfism 7 / 7739
2
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
3
 (HPO:0001510) Growth delay 295 / 7739
4
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
5
 (OMIM) Structural abnormality of growth hormone molecule 1 / 7739
6
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
 (OMIM) Exogenous human growth hormone responsive 1 / 7739
8
 (OMIM) Normal immunoreactive growth hormone after stimulation 1 / 7739
9
 (OMIM) Low somatomedin 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Kowarski syndrome, or short stature associated with bioinactive growth hormone, is characterized clinically by normal or slightly increased GH secretion, pathologically low IGF1 (147440) levels, and normal catch-up growth on GH replacement therapy (Besson et al., 2005).
Clinical Description OMIM Kowarski et al. (1978) studied 2 unrelated 3-year-old boys with growth retardation and delayed bone ages, and with normal immunoreactive growth hormone after stimulation but low levels of somatomedin. Unlike the result in patients with Laron dwarfism (262500), ...
Molecular genetics OMIM Takahashi et al. (1996) reported the case of a boy with short stature who was heterozygous for a mutation in the GH1 gene (139250.0008). In this child, growth hormone not only could not activate the GH receptor (GHR; ...