Patients present with long slender extremities, arachnodactyly comparable to Marfan Syndrome, and, in some cases, hyperextensible joints. [accesspediatrics.mhmedical.com]

[…] level: Disorder Synonym(s): De Die-Smulders-Vles-Fryns syndrome Prevalence: <1 / 1 000 000 Inheritance: Unknown Age of onset: Infancy, Neonatal ICD-10: Q87.8 OMIM: - UMLS: - MeSH: - GARD: 1858 764 MedDRA: - The documents contained in this web site are presented [orpha.net]

At least three findings should be present for Fryns syndrome but in the present case all six criteria were present. [scielo.cl]

In 1971, Lowry et al. 8 described a fourth family with CLS, and Coffin and Siris 5 presented a fifth large family. [docslib.org]

The severity of the clinical presentation and mortality of SLOS correlates well with the extent of the cholesterol deficiency. [30] Secondary deficiencies of steroid hormones may be present in most patients with severe disease. [23] In any child or adult [cmaj.ca]

• Ectomorph

  Purohit MD, MPH Die-Smulders-Vles Fryns Syndrome, also known as Arachnodactyly-intellectual disability-dysmorphism syndrome, is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia), ectomorphic habitus [dovemed.com]

  At a glance This is a medical condition characterized by moderate intellectual deficit, brachycephaly, microstomia, very thin lips, ectomorphic (Marfanoid) habitus accompanied by extremely long, thin fingers and toes, as well as hypoplastic external genitalia [accesspediatrics.mhmedical.com]

• Thin Fingers

  Overview Die-Smulders-Vles-Fryns syndrome: A very rare disorder characterized by facial anomalies, long thin fingers and mental retardation. [checkorphan.org]

  […] with extremely long, thin fingers and toes, and hypoplastic external genitalia. [dovemed.com]

  At a glance This is a medical condition characterized by moderate intellectual deficit, brachycephaly, microstomia, very thin lips, ectomorphic (Marfanoid) habitus accompanied by extremely long, thin fingers and toes, as well as hypoplastic external genitalia [accesspediatrics.mhmedical.com]

• Hyperextensible Joints

  Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. [orpha.net]

  Patients present with long slender extremities, arachnodactyly comparable to Marfan Syndrome, and, in some cases, hyperextensible joints. [accesspediatrics.mhmedical.com]

• Absence of Subcutaneous Fat

  Van Benthem-Driessen-Hanveld Syndrome (Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome): Characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia, absence of subcutaneous fat, and generalized contractures [accesspediatrics.mhmedical.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment The goal of treatment is to provide enough dietary cholesterol to return the plasma cholesterol level to normal. The usual starting dose is 40-50 mg/kg daily, with increases based on somatic growth requirements. [cmaj.ca]

(Outcomes/Resolutions) The prognosis of Die-Smulders-Vles Fryns Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any Individuals with mild conditions have better prognosis than those with severe symptoms [dovemed.com]

(Etiology) The exact underlying genetic cause of Die-Smulders-Vles Fryns Syndrome is currently unknown. [dovemed.com]

Etiology of the weakness in Coffin-Lowry Syndrome [abstract]. Am J Hum Genet 1986; 39: A85. Google Scholar Fryns JP, Vinken L, Van den Berghe H. The Coffin syndrome. Hum Genet 1977; 36: 271–276. [nature.com]

Cholestatic liver disease in a number of patients with severe SLOS has been reported, and it can occur as part of the initial presentation in neonates. [21] Genetics and epidemiology SLOS is an autosomal recessive disease, which implies that both parents [cmaj.ca]

Pathophysiology Unknown. Diagnosis Symptoms of the syndrome are apparent at birth. Diagnosis is based on physical signs of arachnodactyly and the characteristic facies associated with mental retardation. [accesspediatrics.mhmedical.com]

To prevent confusion, Temtamy sug- gested the eponym Coffin-Lowry Syndrome, which has be- come the standard term. In 1976, Smith 14 reviewed the syndrome and accepted it as genuine. [docslib.org]

To prevent confusion, Temtamy suggested the eponym Coffin-Lowry Syndrome, which has become the standard term. In 1976, Smith14 reviewed the syndrome and accepted it as genuine. [nature.com]