About: SCARF syndrome

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SCARF syndrome is a rare syndrome characterized by skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation, and facial abnormalities. These characteristics are what make up the acronym SCARF. It shares some features with Lenz-Majewski hyperostotic dwarfism. It is a very rare disease with an incidence rate of approximately one in a million newborns. It has been clinically described in two males who were maternal cousins, as well as a 3-month-old female. Babies affected by this syndrome tend to have very loose skin, giving them an elderly facial appearance. Possible complications include dyspnea, abdominal hernia, heart disorders, joint disorders, and dislocations of multiple joints. It is believed that this disease's inheritance is X-linked recessive

Attributes	Values
rdf:type	Thing Disease yago:Abstraction100002137 yago:Attribute100024264 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes
rdfs:label	SCARF syndrome (en)
rdfs:comment	SCARF syndrome is a rare syndrome characterized by skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation, and facial abnormalities. These characteristics are what make up the acronym SCARF. It shares some features with Lenz-Majewski hyperostotic dwarfism. It is a very rare disease with an incidence rate of approximately one in a million newborns. It has been clinically described in two males who were maternal cousins, as well as a 3-month-old female. Babies affected by this syndrome tend to have very loose skin, giving them an elderly facial appearance. Possible complications include dyspnea, abdominal hernia, heart disorders, joint disorders, and dislocations of multiple joints. It is believed that this disease's inheritance is X-linked recessive (en)
foaf:name	SCARF syndrome (en)
name	SCARF syndrome (en)
foaf:depiction
dcterms:subject	Syndromes with musculoskeletal abnormalities Syndromes with craniofacial abnormalities Intersex variations Genetic diseases and disorders Syndromes with intellectual disability
Wikipage page ID	5830212 (xsd:integer)
Wikipage revision ID	1094824068 (xsd:integer)
Link from a Wikipage to another Wikipage	Ptosis (eyelid) Sarilumab Elastic fiber Enamel hypoplasia Ephrin B1 FBLN5 Mutation Prevalence Syndromes with musculoskeletal abnormalities Hypospadias Pectus carinatum Cure Infant Inheritance (genetic algorithm) Syndromes with craniofacial abnormalities Craniosynostosis Cryptorchidism Gastrointestinal tract Genetic counseling Genitourinary system Neck Epicanthic fold Genealogy Connective tissue Intersex variations Shortness of breath Strabismus Clinical trial Clitoromegaly Complication (medicine) Past medical history Symptom Heart failure Karyotype Micropenis RAB23 Urinary system 46,XX/46,XY Genetic diseases and disorders Cutis laxa Ethnic group Ambiguous genitalia Nipple Diastasis recti Family history (medicine) Lenz–Majewski syndrome Prognosis Psychomotor retardation Respiratory failure Risk factor Syndromes with intellectual disability ALX3 ATP6V0A2 ATP7A Hernia Hypoplasia EFEMP2 Blood test Medical treatment X-linked recessive inheritance X chromosome Dominance (genetics) Autosome Physical examination

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