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Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency

MedGen UID:: 90978
•Concept ID:: C0342284
•: Disease or Syndrome

Synonym:	Bangstad syndrome
SNOMED CT:	Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency (237614004); Bangstad syndrome (237614004)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0008874
OMIM®:	210740
Orphanet:	ORPHA1227

Definition

Bangstad syndrome is a rare endocrine disease characterized by the association of primordial birdheaded nanism, progressive ataxia, goiter, primary gonadal insufficiency and insulin resistant diabetes mellitus. Plasma concentrations of TSH, PTH, LH, FSH, ACTH, glucagon, and insulin are usually elevated. A generalized cell membrane defect was suggested to be the pathophysiological abnormality in these patients. The mode of inheritance was thought to be autosomal recessive. There have been no further descriptions in the literature since 1989. [from ORDO]

Clinical features

From HPO

Severe short stature

MedGen UID:: 3931
•Concept ID:: C0013336
•: Disease or Syndrome

A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.

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Small for gestational age

MedGen UID:: 65920
•Concept ID:: C0235991
•: Finding

Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.

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Progressive cerebellar ataxia

MedGen UID:: 140727
•Concept ID:: C0393525
•: Disease or Syndrome

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Cerebral hypoplasia

MedGen UID:: 343321
•Concept ID:: C1855330
•: Finding

Underdevelopment of the cerebrum.

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Intellectual disability

MedGen UID:: 811461
•Concept ID:: C3714756
•: Mental or Behavioral Dysfunction

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

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Pancytopenia

MedGen UID:: 18281
•Concept ID:: C0030312
•: Disease or Syndrome

An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).

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Retrognathia

MedGen UID:: 19766
•Concept ID:: C0035353
•: Congenital Abnormality

An abnormality in which the mandible is mislocalised posteriorly.

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Insulin-resistant diabetes mellitus

MedGen UID:: 163439
•Concept ID:: C0854110
•: Disease or Syndrome

A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels.

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Convex nasal ridge

MedGen UID:: 66809
•Concept ID:: C0240538
•: Finding

Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.

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Narrow face

MedGen UID:: 373334
•Concept ID:: C1837463
•: Finding

Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).

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Goiter

MedGen UID:: 42270
•Concept ID:: C0018021
•: Disease or Syndrome

An enlargement of the thyroid gland.

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Primary gonadal insufficiency

MedGen UID:: 349078
•Concept ID:: C1859014
•: Finding

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Abnormally large globe

MedGen UID:: 344595
•Concept ID:: C1855852
•: Finding

Diffusely large eye (with megalocornea) without glaucoma.

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Abnormality of blood and blood-forming tissues
- Pancytopenia
Abnormality of head or neck
- Convex nasal ridge
- Narrow face
Abnormality of metabolism/homeostasis
- Insulin-resistant diabetes mellitus
Abnormality of the endocrine system
- Goiter
- Primary gonadal insufficiency
Abnormality of the eye
- Abnormally large globe
Abnormality of the musculoskeletal system
- Retrognathia
Abnormality of the nervous system
Growth abnormality
- Severe short stature
- Small for gestational age

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVBird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency

Polyendocrinopathy
- Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency

Follow this link to review classifications for Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency in Orphanet.

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Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency

Definition

Clinical features

Term Hierarchy

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