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Feingold syndrome(FGLDS1)

MedGen UID:
163209
Concept ID:
C0796068
Disease or Syndrome
Synonyms: Brunner Winter syndrome; Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum; Feingold Syndrome 1; FGLDS1; MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE; MICROCEPHALY, MENTAL RETARDATION, AND TRACHEOESOPHAGEAL FISTULA SYNDROME; microcephaly-mesobrachyphalangy-tracheoesophageal fistula (MMT) syndrome; microcephaly-oculo-digito-esophageal-duodenal (MODED) syndrome; Microcephaly-oculo-digito-esophageal-duodenal syndrome; MMT syndrome; oculo-digito-esophagoduodental (ODED) syndrome; Oculodigitoesophagoduodenal syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene: MYCN
Cytogenetic location: 2p24.3
OMIM: 164280

Disease characteristics

Excerpted from the GeneReview: Feingold Syndrome 1
Feingold syndrome 1 is characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresias (primarily esophageal and/or duodenal), and mild to moderate learning disability. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Carlo LM Marcelis  |  Arjan PM de Brouwer   view full author information

Additional descriptions

From OMIM
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). Genetic Heterogeneity of Feingold Syndrome Feingold syndrome-2 (FGLDS2; 614326) is caused by hemizygous deletion of the MIR17HG gene (609415) on chromosome 13q31.3.  http://www.omim.org/entry/164280
From GHR
Feingold syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Individuals with Feingold syndrome 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. People with Feingold syndrome 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). Additional common features 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 disability. Less often, affected individuals have hearing loss, impaired growth, and kidney and heart abnormalities.  http://ghr.nlm.nih.gov/condition/feingold-syndrome

Clinical features

High palate
MedGen UID:
504397
Concept ID:
CN000211
Finding
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Everted lower lip vermilion
MedGen UID:
504402
Concept ID:
CN000224
Finding
An abnormal configuration of the `lower lip` (FMA:59818) such that it is turned outward i.e., `everted` (PATO:0001597), with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.
Facial asymmetry
MedGen UID:
504421
Concept ID:
CN000304
Finding
An abnormal difference between the left and right sides of the face.
Wide nasal bridge
MedGen UID:
504442
Concept ID:
CN000404
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Blepharophimosis
MedGen UID:
504508
Concept ID:
CN000545
Finding
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Upslanted palpebral fissure
MedGen UID:
504509
Concept ID:
CN000546
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Hearing impairment
MedGen UID:
446352
Concept ID:
CN000341
Finding
A `decreased magnitude` (PATO:0002018) of the `sensory perception of sound` (GO:0007605).
Low-set ears
MedGen UID:
504425
Concept ID:
CN000345
Finding
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Specific learning disability
MedGen UID:
504802
Concept ID:
CN001216
Finding
Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
Short toe
MedGen UID:
500911
Concept ID:
CN001658
Finding
A `toe` (FMA:25046) that appears disproportionately short compared to the foot.
Polyhydramnios
MedGen UID:
504854
Concept ID:
CN001423
Finding
The presence of excess amniotic fluid in the uterus during pregnancy.
Annular pancreas
MedGen UID:
504936
Concept ID:
CN001578
Finding
A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum.
Asplenia
MedGen UID:
504941
Concept ID:
CN001590
Finding
Absence (aplasia) of the `spleen` (FMA:7196).
Accessory spleen
MedGen UID:
504942
Concept ID:
CN001591
Finding
An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.
Polysplenia
MedGen UID:
504943
Concept ID:
CN001592
Finding
Polysplenia is a congenital disease manifested by multiple small accessory spleens.
Esophageal atresia
MedGen UID:
505062
Concept ID:
CN001837
Finding
A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach.
Duodenal atresia
MedGen UID:
505168
Concept ID:
CN002038
Finding
A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum.
Tracheoesophageal fistula
MedGen UID:
505275
Concept ID:
CN002337
Finding
An abnormal connection (fistula) between the esophagus and the trachea.
Patent ductus arteriosus
MedGen UID:
504886
Concept ID:
CN001496
Finding
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Vocal cord paralysis
MedGen UID:
504870
Concept ID:
CN001461
Finding
A loss of the ability to move the `vocal folds` (FMA:55457).
Tracheoesophageal fistula
MedGen UID:
505275
Concept ID:
CN002337
Finding
An abnormal connection (fistula) between the esophagus and the trachea.
Asplenia
MedGen UID:
504941
Concept ID:
CN001590
Finding
Absence (aplasia) of the `spleen` (FMA:7196).
Accessory spleen
MedGen UID:
504942
Concept ID:
CN001591
Finding
An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.
Polysplenia
MedGen UID:
504943
Concept ID:
CN001592
Finding
Polysplenia is a congenital disease manifested by multiple small accessory spleens.

Recent clinical studies

Diagnosis

Isidor B, Le Meur G, Conti C, Caldagues E, Lainey E, Launay E, Leclair MD, Le Francois T, Pichon O, Boisseau P, Migraine A, Keren B, Le Caignec C, Crow YJ, David A
Am J Med Genet A 2013 Aug;161A(8):1829-32. Epub 2013 Jul 3 doi: 10.1002/ajmg.a.36021. [Epub ahead of print] PMID: 23824919
Tassano E, Di Rocco M, Signa S, Gimelli G
Am J Med Genet A 2013 Apr;161A(4):894-6. Epub 2013 Mar 12 doi: 10.1002/ajmg.a.35781. [Epub ahead of print] PMID: 23495052
Chen CP, Lin SP, Chern SR, Wu PS, Chang SD, Ng SH, Liu YP, Su JW, Wang W
Eur J Med Genet 2012 Nov;55(11):666-9. Epub 2012 Jul 25 doi: 10.1016/j.ejmg.2012.07.003. [Epub ahead of print] PMID: 22842076
Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. [Epub ahead of print] PMID: 21846383Free PMC Article
Koçak H, Ozaydin E, Köse G, Marcelis CL, Kamsteeg EJ, Ceylaner S
Genet Couns 2009;20(3):261-7. PMID: 19852433

Prognosis

Solomon BD
Orphanet J Rare Dis 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. [Epub ahead of print] PMID: 21846383Free PMC Article
van Bokhoven H, Celli J, van Reeuwijk J, Rinne T, Glaudemans B, van Beusekom E, Rieu P, Newbury-Ecob RA, Chiang C, Brunner HG
Nat Genet 2005 May;37(5):465-7. Epub 2005 Apr 10 doi: 10.1038/ng1546. [Epub ahead of print] PMID: 15821734

Clinical prediction guides

Lehman VT, Patterson MC, Babovic-Vuksanovic D, Rydberg C
Am J Med Genet A 2009 Dec;149A(12):2824-7. doi: 10.1002/ajmg.a.33108. PMID: 19921653
van Bokhoven H, Celli J, van Reeuwijk J, Rinne T, Glaudemans B, van Beusekom E, Rieu P, Newbury-Ecob RA, Chiang C, Brunner HG
Nat Genet 2005 May;37(5):465-7. Epub 2005 Apr 10 doi: 10.1038/ng1546. [Epub ahead of print] PMID: 15821734
Celli J, van Beusekom E, Hennekam RC, Gallardo ME, Smeets DF, de Córdoba SR, Innis JW, Frydman M, König R, Kingston H, Tolmie J, Govaerts LC, van Bokhoven H, Brunner HG
Am J Hum Genet 2000 Feb;66(2):436-44. doi: 10.1086/302779. PMID: 10677303Free PMC Article

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