Intellectual disability-balding-patella luxation-acromicria syndrome

Also known as: Scholte-Begeer-van Essen syndrome

Definition

Orphanet

Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Midface retrusion Midface hypoplasia, Midface, flat, Underdevelopment of midface, Retrusive midface, Decreased size of midface, Decreased projection of midface, Hypotrophic midface [more] Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Alopecia of scalp Baldness, Missing scalp hair, Absence of scalp hair, Scalp hair loss, Pathologic hair loss from scalp [more]
Abnormal facial shape Dysmorphic facial features, Facial Dysmorphism, Deformity of face, Distortion of face, Unusual facial appearance, Funny looking face, Dysmorphic facies, Unusual facies, Malformation of face, Abnormal morphology of the face, Distinctive facies [more] An abnormal morphology (form) of the face or its components.
Hypogonadism Decreased activity of gonads A decreased functionality of the gonad.
Intellectual disability Nonprogressive intellectual disability, Poor school performance, Mental-retardation, Dull intelligence, Nonprogressive mental retardation, Mental deficiency, Mental retardation, nonspecific, Low intelligence [more] Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

Other Classifiers and IDs