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Feingold syndrome type 2(FGLDS2)

MedGen UID:: 482119
•Concept ID:: C3280489
•: Disease or Syndrome

Synonym:	BRACHYDACTYLY WITH SHORT STATURE AND MICROCEPHALY
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)

Monarch Initiative:	MONDO:0013691
OMIM®:	614326
Orphanet:	ORPHA391646

Definition

Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described in a minority of patients (summary by Teszas et al., 2006). For a discussion of genetic heterogeneity of Feingold syndrome, see FGLDS1 (164280). [from OMIM]

Additional description

From MedlinePlus Genetics
Feingold syndrome is a disorder that affects many parts of the body. There are two types of Feingold syndrome, distinguished by their genetic cause; both types have similar features that can vary among affected individuals.

People with Feingold syndrome type 1 are frequently born with a blockage in part of their digestive system called gastrointestinal atresia. In most cases, the blockage occurs in the esophagus (esophageal atresia) or in part of the small intestine (duodenal atresia). Individuals with type 2 do not have gastrointestinal atresias.

Additional common features of both types of Feingold syndrome include an unusually small head size (microcephaly), a small jaw (micrognathia), a narrow opening of the eyelids (short palpebral fissures), and mild to moderate learning disabilities. Less often, affected individuals have hearing loss, short stature, or kidney or heart abnormalities.

Individuals with Feingold syndrome type 1 or type 2 have characteristic abnormalities of their fingers and toes. Almost all people with this condition have a specific hand abnormality called brachymesophalangy, which refers to shortening of the second and fifth fingers. Other common abnormalities include fifth fingers that curve inward (clinodactyly), underdeveloped thumbs (thumb hypoplasia), and fusion (syndactyly) of the second and third toes or the fourth and fifth toes. https://medlineplus.gov/genetics/condition/feingold-syndrome

Clinical features

From HPO

Short thumb

MedGen UID:: 98469
•Concept ID:: C0431890
•: Congenital Abnormality

Hypoplasia (congenital reduction in size) of the thumb.

See: Feature record | Search on this feature

Short middle phalanx of the 5th finger

MedGen UID:: 322335
•Concept ID:: C1834060
•: Anatomical Abnormality

Hypoplastic/small middle phalanx of the fifth finger.

See: Feature record | Search on this feature

3-4 toe syndactyly

MedGen UID:: 371723
•Concept ID:: C1834062
•: Finding

Syndactyly with fusion of toes three and four.

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Short middle phalanx of the 2nd finger

MedGen UID:: 867077
•Concept ID:: C4021435
•: Anatomical Abnormality

Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.

See: Feature record | Search on this feature

2-3 toe syndactyly

MedGen UID:: 1645640
•Concept ID:: C4551570
•: Congenital Abnormality

Syndactyly with fusion of toes two and three.

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Ventricular septal defect

MedGen UID:: 42366
•Concept ID:: C0018818
•: Congenital Abnormality

A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.

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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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Postnatal growth retardation

MedGen UID:: 395343
•Concept ID:: C1859778
•: Finding

Slow or limited growth after birth.

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Intestinal atresia

MedGen UID:: 7129
•Concept ID:: C0021828
•: Disease or Syndrome

An abnormal closure, or atresia of the tubular structure of the intestine.

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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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Secondary microcephaly

MedGen UID:: 608952
•Concept ID:: C0431352
•: Finding

Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.

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Show all Hide all

Abnormality of limbs
Abnormality of the cardiovascular system
- Ventricular septal defect
Abnormality of the digestive system
- Intestinal atresia
Abnormality of the musculoskeletal system
- Secondary microcephaly
Abnormality of the nervous system
- Intellectual disability
Growth abnormality
- Postnatal growth retardation
- Short stature

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVFeingold syndrome type 2

Dysostosis with brachydactyly with extraskeletal manifestations
- Feingold syndrome
  - Feingold syndrome type 2

Follow this link to review classifications for Feingold syndrome type 2 in Orphanet.

Recent clinical studies

Etiology

A fourth case of Feingold syndrome type 2: psychiatric presentation and management.

Ganjavi H, Siu VM, Speevak M, MacDonald PA
BMJ Case Rep 2014 Nov 12;2014 doi: 10.1136/bcr-2014-207501. PMID: 25391829 Free PMC Article

See all (1)

Diagnosis

Feingold syndrome type 2 in a patient from China.

Lei J, Han L, Huang Y, Long M, Zhao G, Yan S, Zhang J
Am J Med Genet A 2021 Jul;185(7):2262-2266. Epub 2021 Apr 5 doi: 10.1002/ajmg.a.62190. PMID: 33818875

A fourth case of Feingold syndrome type 2: psychiatric presentation and management.

Ganjavi H, Siu VM, Speevak M, MacDonald PA
BMJ Case Rep 2014 Nov 12;2014 doi: 10.1136/bcr-2014-207501. PMID: 25391829 Free PMC Article

See all (2)