Feingold syndrome

What is Feingold syndrome?

This rare disease is a genetic syndrome that affects multiple parts of the body.

There are two types of the condition:

Type 1 and Type 2, each with their own genetic cause. Type 1 is the more common form of the syndrome.

Syndrome Synonyms:
Brachydactyly With Short Stature And Microcephaly Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus Or Duodenum Feingold syndrome Microcephaly And Digital Abnormalities With Normal Intelligence Microcephaly-Oculo-Digital-Esophageal-Duodenal syndrome Microcephaly-oculo-digito-esophageal-duodenal Syndrome; Moded Microcephaly, Mental Retardation, And Tracheoesophageal Fistula Syndrome Mmt Syndrome MODED Oculo-digito-oesophageo-duodenal syndrome Oculodigitoesophagoduodenal Syndrome; Oded Oded Syndrome

What gene changes cause Feingold syndrome?

Type 1 is caused by changes to the MYCN gene.

Type 2 is caused by deletions to a region of Chromosome 13 which includes the MIR17HG gene.

It is inherited in an autosomal dominant pattern. In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Feingold syndrome?

Main symptoms of the syndrome include a number of unique physical characteristics relating to the digits of the hand and feet. These include a shortening of the 2nd and 5th fingers, a curving inward of the 5th fingered, underdeveloped thumbs and a fusion of the 2nd/3rd or 4th/5th toes.

Other physical features of the syndrome include a very small head and jaw. A narrow opening of the eyelids are also common. Hearing loss and a short stature might also be features of some individuals.

Individuals with the syndrome are often also diagnosed with mild to moderate learning difficulties.

Possible clinical traits/features:
Prominent occiput, Depressed nasal tip, Hearing impairment, Short toe, High palate, Decreased fetal movement, Epicanthus, Everted lower lip vermilion, Esophageal atresia, Facial asymmetry, Duodenal atresia, Small anterior fontanelle, Autosomal dominant inheritance, Patent ductus arteriosus, Polysplenia, Posteriorly rotated ears, Annular pancreas, Accessory spleen, Wide nasal bridge, Polyhydramnios, Blepharophimosis, Asplenia, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, 4-5 toe syndactyly, 2-3 toe syndactyly, Low-set ears, Anteverted nares, Intellectual disability, Micrognathia, Specific learning disability, Tracheoesophageal fistula, Vocal cord paralysis, Upslanted palpebral fissure, Triangular face, Microcephaly, Thick vermilion border

How does someone get tested for Feingold syndrome?

The initial testing for Feingold syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

Medical information on Feingold syndrome

A child with a tracheo-oesophageal fistula and duodenal atresia was reported by Feingold et al., (1975). He was also noted to be microcephalic, although at 16 months his development was considered to be normal. His palpebral fissures were narrow, he had a small jaw, with low-set ears and a prominent occiput. He was thought to have (not clear from the photograph) a hypoplastic middle phalanx of the index finger. His father and paternal grandmother were also microcephalic, had the identical hand abnormality and were said to be of normal intelligence. Konig et al., (1990) and Brunner and Winter (1991) reported further families. The latter authors pointed out the similarity with the distal 13q- syndrome. Consistent abnormalities have been brachymesophalangy of the fifth fingers, 4-5 syndactyly of the toes (with occasional 2-3 syndactyly), microcephaly and short palpebral fissures. 20-30% of cases have had duodenal atresia (one due to an annular pancreas) and a higher percentage have oesophageal atresia. Markedly hypoplastic thumbs, sensorineural deafness, tricuspid atresia and a VSD have been reported in individual cases. Büttiler et al., (2000) reported a case with anal atresia. Piersall et al., (2000) reported a family where affected individuals also had vertebral anomalies. In addition one patient had hypothyroidism. Cerebral and cerebellar white matter changes on MRI have also reported (Lehman et al., 2009).
Feingold et al., (1997) reported 6 new families with 12 new patients. They found that developmental delay was a feature in over 85% of cases. Kawame et al., (1997) reported a mother and two children, and an isolated case, with microcephaly, normal intelligence, and similar hand and foot anomalities to those seen in the present condition. However no intestinal atresias were present.
The family reported by Innis et al., (1997) most likely had this condition, although there were no bowel atresias although one possible case in the family had a tracheoesophageal fistula. Urinary relux, small kidneys, hydronephrosis and renal failure might all occur (Aslam et al., 2008).
Frydman et al., (1997) suggest the name MODED - microcephaly - oculo - digital - esophageal - duodenal syndrome. They and Celli et al., (2003) provide good reviews. Shaw-Smith et al., (2005) added that short stature is a frequent feature too. Celli et al., (2000) mapped the gene to 2p23-p24, and reported a mother and child with a microdeletion. Heterozygous mutations were found in the proto-oncogene MYCN (van Bokhoven et al., 2005).
The second family in the report by Blaumeister et al., (2008) is instructive. Five members were affected over 3 generations (all had MYCN mutations). The probands were monozygotic twins, both intellectually disabled, but only one had intestinal atresia and the other sensory-neural deafness. Their mother only had 5th finger clinodactyly, whereas her brother had clinodactyly, hydronephrosis and 2-3 and 4-5 syndactyly of the toes. Clinical diagnosis is difficult!
There is good evidence for heterogeneity (Cognet et al., 2011).

* This information is courtesy of the L M D.
If you find a mistake or would like to contribute additional information, please email us at: [email protected]

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