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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.
 
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
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.

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.

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.

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.  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.
Short middle phalanx of the 5th finger
MedGen UID:
322335
Concept ID:
C1834060
Anatomical Abnormality
Hypoplastic/small middle phalanx of the fifth finger.
3-4 toe syndactyly
MedGen UID:
371723
Concept ID:
C1834062
Finding
Syndactyly with fusion of toes three and four.
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.
2-3 toe syndactyly
MedGen UID:
1645640
Concept ID:
C4551570
Congenital Abnormality
Syndactyly with fusion of toes two and three.
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.
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).
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Intestinal atresia
MedGen UID:
7129
Concept ID:
C0021828
Disease or Syndrome
An abnormal closure, or atresia of the tubular structure of the intestine.
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.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFeingold syndrome type 2
Follow this link to review classifications for Feingold syndrome type 2 in Orphanet.

Recent clinical studies

Etiology

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

Diagnosis

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

Therapy

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

Prognosis

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

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