SCARF syndrome

Definition

Orphanet

SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Abnormality of the face Abnormality of the physiognomy, Abnormal face, Facial anomaly, Abnormality of the visage, Facial abnormality, Anomaly of the face, Anomaly of face, Disorder of face, Disorder of the face, Abnormality of the countenance [more] An abnormality of the face.
Ambiguous genitalia Ambiguous external genitalia, Intersex genitalia, Ambiguous external genitalia at birth [more] A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.
Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental retardation, Motor and developmental delay, Developmental delay in early childhood, Retarded psychomotor development, Retarded mental development, Delayed cognitive development, Retarded development, Delayed developmental milestones, Delayed development, Psychomotor development failure, Mental and motor retardation, Psychomotor delay, Delayed psychomotor development [more] A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Cutis laxa Chalazoderma, Elastolysis, Cutaneous laxity, Hypoelastic skin, Loose skin, Hanging skin, Inelastic skin, Dermatomegaly, Lax skin, Generalized elastolysis, Skin laxity, Dermatochalasia [more] Wrinkled, redundant, inelastic and sagging skin.
Craniosynostosis Premature fontanel closure, Premature suture closure, Cranial suture synostosis, Craniosyostosis, Craniostenosis, Early fusion of cranial sutures, Deformity of the skull, Premature closure of cranial sutures [more] Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.

Other Classifiers and IDs