Short stature-pituitary and cerebellar defects-small sella turcica syndrome(CPHD4)

MedGen UID:: 394816
•Concept ID:: C2678408
•: Disease or Syndrome

Synonyms:	CPHD4; LHX4-Related Combined Pituitary Hormone Deficiency; Pituitary hormone deficiency, combined 4; Pituitary hormone deficiency, combined with or without cerebellar defects; Short stature, pituitary and cerebellar defects and small sella turcica
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	LHX4 (1q25.2)

Monarch Initiative:	MONDO:0009880
OMIM®:	262700
Orphanet:	ORPHA85442

Definition

Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor <i>LHX4</i> gene (1q25). [from ORDO]

Clinical features

From HPO

Pituitary dwarfism

MedGen UID:: 8506
•Concept ID:: C0013338
•: Disease or Syndrome

A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones.

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Short stature

MedGen UID:: 87607
•Concept ID:: C0349588
•: Finding

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

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Severe postnatal growth retardation