Acronym FLPIS Synonyms Scott craniodigital syndrome with mental retardation Syndactyly, type I, with microcephaly and mental retardation Keywords Any medical or genetic information present in this entry is provided for research, educational and informational [uniprot.org]

Filippi syndrome is present at birth and impacts the development of the head, face, and limbs. [rarediseases.info.nih.gov]

Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive. [retkebolesti.com]

Some intellectual disability is present in most individuals (often mislabeled as mental retardation). Mental and physical growths are delayed with short stature and some impairment of mental function the result. [disorders.eyes.arizona.edu]

• Multiple Congenital Anomalies

  This multiple congenital anomalies/mental retardation pattern very much resembles that described by Filippi. This observation confirms that this syndrome is a distinct, probably autosomal recessive entity. [ncbi.nih.ncbi.unboundmedicine.com]

  These multiple congenital anomalies and mental retardation, (MCA/MR Syndromes) very much resemble these described by Filippi [1] and reported in other families by Meinecke [2]. [hindawi.com]

• Failure to Thrive

  A low birth weight and short stature are common features, and most infants with the syndrome are also diagnosed with failure to thrive. [fdna.health]

• Microdontia

  Some individuals have cryptorchidism, seizures, and ectodermal abnormalities including nail hypoplasia, hirsutism, and microdontia. Mental and physical delays are common. [disorders.eyes.arizona.edu]

  Common features include cryptorchidism, speech impairment, and clinodactyly of the fifth finger, Some patients exhibit visual disturbances, polydactyly, seizures, and/or ectodermal abnormalities, such as nail hypoplasia, long eyelashes, hirsutism, and microdontia [malacards.org]

  Relative microdontia with respect the crown root length was shorter than normal measurements (as measured on a radiovisuography), by approximately 8 mm, in mandibular right and left first molars and first premolars (Figure 4) and also in maxillary first [hindawi.com]

• Broad Nasal Bridge

  OMIM® : 57 Filippi syndrome is characterized by short stature, microcephaly, syndactyly, intellectual disability, and facial dysmorphism consisting of bulging forehead, broad and prominent nasal bridge, and diminished alar flare. [malacards.org]

  Definition A rare disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. [uniprot.org]

  Signs and symptoms include a small head (microcephaly ), webbing of the fingers and toes (syndactyly ), intellectual disability, growth delay, and distinctive facial features (high and broad nasal bridge, thin nostrils, small chin or micrognathia, and [rarediseases.info.nih.gov]

  Filippi syndrome is an extremely rare genetic condition characterized by a small head (microcephaly), webbing of the fingers and toes (syndactyly), intellectual disability, growth delay, and distinctive facial features (high and broad nasal bridge, thin [rareguru.com]

  nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). [retkebolesti.com]

• Dysphasia

  Affiliated tissues include tongue, and related phenotypes are intellectual disability and dysphasia Disease Ontology : 12 A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, [malacards.org]

• Dystonia

  MalaCards based summary : Filippi Syndrome, also known as type 1 syndactyly-microcephaly-intellectual disability syndrome, is related to scott bryant graham syndrome and chromosome 2q35 duplication syndrome, and has symptoms including seizures and dystonia [malacards.org]

Treatment may require the coordinated efforts of a team of medical professionals who may need to systematically and comprehensively plan an affected child's treatment. [rareguru.com]

What are the current treatments for Filippi Syndrome? Treatment of Filippi syndrome is focused on managing the symptoms. Options may include surgery to correct fused fingers and physical and speech therapy. [medifind.com]

Other treatment is symptomatic and supportive. [rarediseases.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

Treatment is focused on managing the symptoms.[1][2][3] Last updated: 11/18/2020 [rarediseases.info.nih.gov]

The mutations seem unrelated with the electroclinical features and prognosis, while the prognosis appears to be related with the electroclinical features. The prognosis is particularly poor in presence of typical SMEI features. [moh-it.pure.elsevier.com]

Diagnosis and Prognosis: This condition is evident at birth and thus a pediatrician or geneticist is likely to make the diagnosis. No treatment is available. Nothing is known about longevity. Additional Information [disorders.eyes.arizona.edu]

Full title Filippi syndrome Synonyms Type 1 syndactyly-microcephaly-intellectual disability syndrome Name in a foreign language - Inheritance Autosomal recessive CONTENT INFORMATION Textual description Etiology Forecast Differential diagnosis Treatment [retkebolesti.com]

The etiology of the syndrome is unknown; however, there is some evidence to suggest a genetic basis. The full text of this article hosted at iucr.org is unavailable due to technical difficulties. [onlinelibrary.wiley.com]

These mutations modify control of enzyme activity and represent the second cause of congenital hyperinsulinism of known genetic etiology. [analesdepediatria.org]

1 syndactyly-microcephaly-intellectual disability syndrome Name in a foreign language - Inheritance Autosomal recessive CONTENT INFORMATION Textual description Etiology Forecast Differential diagnosis Treatment Diagnostic methods Antenatal diagnosis Epidemiology [retkebolesti.com]

Multiple Dental and Skeletal Abnormalities in an Individual with Filippi Syndrome", Case Reports in Dentistry, vol. 2013, Article ID 845405, 4 pages, 2013. https://doi.org/10.1155/2013/845405 Meera Sandhu,1 Pooja Malik,1 and Rooposhi Saha1 1Pedodontics and Preventive [hindawi.com]