Syndactyly is the most common feature present in Filippi syndrome as present in our case also. Growth retardation, present in our patient, has been reported in nearly half the cases by Sharif and Donnai [4]. [ncbi.nlm.nih.gov]

Child presented to us at 4 years of age. His head circumference was 42 cm [docksci.com]

Since… In this paper, we present some recent studies on fluid–structure interaction problems in the presence of free surface flow. [semanticscholar.org]

The upslanted short palpebral fissures were present in the father as well and are thus regarded as familial. [nature.com]

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

• Fishing

  Sharif and Donai [4] (2004) 2 M Syndactyly of hands and feet, broad prominent nasal bridge, hypoplastic alae nasi, seizures, intrauterine growth retardation, Normal HRB, FISH 22q11 and 16p13.3, and telomere analysis. [ncbi.nlm.nih.gov]

• 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]

• Small Palpebral Fissures

  Accommodative esotropia with possible type 1 Duane syndrome, brachycephaly and mild ptosis in one case, small pinched nasal bridge, deviated nasal septum and high arch palate, indistinct palmar creases, epicanthic folds, small palpebral fissures (1.9 [ncbi.nlm.nih.gov]

• Sparse Hair

  Frontal hirsutism MedGen UID: 333413 •Concept ID: C1839830 • Finding Excessive amount of hair growth on forehead. Sparse hair MedGen UID: 1790211 •Concept ID: C5551005 • Finding Reduced density of hairs. [ncbi.nlm.nih.gov]

• Thin Lips

  Dysmorphologic examination (Figure 1) showed ptosis, hypertelorism, upslanted short palpebral fissures, broad nose, thin lips, and teeth talon cusps. [nature.com]

The goal of treatment is mainly to control symptoms, so it will depend on each patient's condition to provide the most appropriate treatment. [vinmec.com]

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]

Symptomatic treatment of it is carried out after diagnostic tests such as video fluoroscopic barium study ("cookie swallow" test) or fiber-optic endoscopic evaluation.[22] Despite the diversity in speech therapy techniques, most treatment plans follow [en.wikipedia.org]

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

No treatment is available. Nothing is known about longevity. Additional Information [disorders.eyes.arizona.edu]

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]

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]

The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. [ncbi.nlm.nih.gov]

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]

[…] explanation on the cause of improvements For post-treatment monitoring, computer-based speech therapy that makes use of instructional software can provide computer-led practices as aftercare and quantify performances outside of conventional treatments.[24] Epidemiology [en.wikipedia.org]

Till now there is no means to prevent this condition but genetic counseling is helpful in risk assessment. Symptomatic treatment, supportive therapy and care are the only viable option. Notes Financial or Other Competing Interests None. [ncbi.nlm.nih.gov]

[…] than normal).[10] Other mutations include a base pair transition in the start codon, which is the starting site of translation of the gene.[10] A transition mutation occurring at this codon disrupts the codon sequence and abolishes the site.[10] This prevents [en.wikipedia.org]

This might prevent unnecessary extensive diagnostic analysis for other MCA/ID syndromes. It is possible that there is underdiagnosis of RTS in mild/atypical cases due to mosaicism. [nature.com]