Cerebrofacioarticular syndrome

Also known as: Van Maldergem syndrome

Definition

Orphanet

Cerebrofacioarticular syndrome is a rare multiple congenital anomalies syndrome characterized by mild to severe intellectual disability, a distinctive facial gestalt (blepharophimosis, maxillary hypoplasia, telecanthus, microtia and atresia of the external auditory meatus) as well as skeletal and articular abnormalities (e.g. camptodactyly of the fingers, cutaneous syndactyly, talipes equinovarus, flexion contractures of the proximal interphalangeal joints, hip or elbow subluxation, joint laxity). Affected individuals also present neonatal hypotonia, variable respiratory manifestations, chronic feeding difficulties and gray matter heterotopia.

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Symptoms

Medical Term Other Names Description
Microtia Small ears, Underdeveloped ears, Hypoplastic pinna, Small pinnae, Hypoplasia of the external ear, Bilateral microtia, Hypoplastic ears [more] Underdevelopment of the external ear.
Telecanthus Dystopia canthorum, Increased distance between medial canthi, Increased intercanthal distance, Corners of eye widely separated [more] Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Blepharophimosis Decreased width of palpebral fissure, Narrow opening between the eyelids A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Talipes equinovarus Equinovarus, Foot, talipes equinovarus, Pes equinovarus, Clubfeet, Club feet, Pes equinus, Club foot, Clubfoot [more] Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.
Feeding difficulties Feeding problems, Poor feeding Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Generalized hypotonia Generalized muscular hypotonia, Decreased muscle tone, Low muscle tone, Hypotonia [more] Generalized muscular hypotonia (abnormally low muscle tone).
Gray matter heterotopias Gray matter heterotopia is a neurological disorder caused by clumps of grey matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation.
Neonatal hypotonia Hypotonia, in neonatal onset, Low muscle tone, in neonatal onset [more] Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Talipes Talipes foot deformities A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.
Heterotopia
Camptodactyly The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Syndactyly Webbed fingers or toes Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are refered to as "symphalangism".
Flexion contracture Contracture, Flexion contractures of joints, Joint contractures [more] A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Cutaneous syndactyly Cutaneous syndactyly of digits A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits.
Joint laxity Ligamentous laxity, Loose-jointedness, Lax joints, Joint ligamentous laxity, Loosejointedness, Joint instability [more] Lack of stability of a joint.
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.

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