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Biemond syndrome type 2

MedGen UID:: 347159
•Concept ID:: C1859487
•: Disease or Syndrome

Synonyms:	Biemond syndrome II; Iris coloboma, mental retardation, obesity, hypogenitalism, and postaxial polydactyly
SNOMED CT:	Biemond syndrome type 2 (717887003)
Modes of inheritance:	Unknown inheritance MedGen UID: 989040 •Concept ID: CN307042 • Finding Source: Orphanet Hereditary clinical entity whose mode of inheritance is unknown. See: This record Unknown inheritance (Orphanet)

Monarch Initiative:	MONDO:0008864
OMIM®:	210350
Orphanet:	ORPHA141333

Definition

An exceedingly rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype including iris coloboma, short stature, obesity, hypogonadism, post axial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. The syndrome shares features with Bardet-Biedl syndrome. There have been no new descriptions in the literature since 1997. [from SNOMEDCT_US]

Clinical features

From HPO

Polydactyly of a biphalangeal thumb

MedGen UID:: 237235
•Concept ID:: C1395852
•: Congenital Abnormality

Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.

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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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Hydrocephalus

MedGen UID:: 9335
•Concept ID:: C0020255
•: Disease or Syndrome

Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.

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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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Abnormality of the endocrine system

MedGen UID:: 893021
•Concept ID:: C4025823
•: Anatomical Abnormality

An abnormality of the endocrine system.

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Iris coloboma

MedGen UID:: 116097
•Concept ID:: C0240063
•: Anatomical Abnormality

A coloboma of the iris.

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Abnormality of limbs
- Polydactyly of a biphalangeal thumb
Abnormality of the endocrine system
- Abnormality of the endocrine system
Abnormality of the eye
- Iris coloboma
Abnormality of the nervous system
- Hydrocephalus
- Intellectual disability
Growth abnormality
- Short stature

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVBiemond syndrome type 2

Malformation syndrome with short stature
- Biemond syndrome type 2

Recent clinical studies

Diagnosis

Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes.

Verloes A, Temple IK, Bonnet S, Bottani A
Am J Med Genet 1997 Apr 14;69(4):370-9. doi: 10.1002/(sici)1096-8628(19970414)69:4<370::aid-ajmg7>3.0.co;2-p. PMID: 9098485

See all (1)

Clinical prediction guides

Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes.

Verloes A, Temple IK, Bonnet S, Bottani A
Am J Med Genet 1997 Apr 14;69(4):370-9. doi: 10.1002/(sici)1096-8628(19970414)69:4<370::aid-ajmg7>3.0.co;2-p. PMID: 9098485

See all (1)

MedGen

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Biemond syndrome type 2

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Diagnosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Molecular resources

Consumer resources

Reviews

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