Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

Also known as: Autosomal recessive intellectual disability due to TRAPPC9 deficiency

Definition

Orphanet

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Synophrys Unibrow, Synophris, Monobrow [more] Meeting of the medial eyebrows in the midline.
Brachycephaly Broad cranium shape, Broad skull shape, Wide head shape, Wide cranium shape, Wide skull shape, Broad head shape [more] An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Hypertelorism Increased distance between eye sockets, Increased distance between eyes, Increased interpupillary distance, Widely spaced eyes, Excessive orbital separation, Widened interpupillary distance, Ocular hypertelorism, Wide-set eyes [more] Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Depressed nasal bridge Concave nasal bridge, Low nasal root, Retruded bridge of nose, Flat nasal bridge, Concave bridge of nose, Retruded nasal bridge, Flat bridge of nose, Depressed bridge of nose, Depressed nasal root/bridge, Depressed nasal root, Flat nasal root, Low nasal bridge, Flattened nasal bridge [more] Posterior positioning of the nasal root in relation to the overall facial profile for age.
Microcephaly small cranium, Decreased circumference of cranium, Small head, Small skull, Small head circumference, Reduced head circumference, Decreased size of cranium, Decreased size of skull, Abnormally small skull, Decreased size of head, Abnormally small cranium, small calvarium, Abnormally small head [more] Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Epicanthus Epicanthic folds, Prominent eye folds, Palpebronasal fold, Plica palpebronasalis, Epicanthal folds, Eye folds [more] A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
Hyperintensity of cerebral white matter on MRI White matter hyperintensity A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.
Focal hyperintensity of cerebral white matter on MRI
Obesity Having too much body fat Accumulation of substantial excess body fat.
Round face Circular face, Round, full face, Round facies, Round facial appearance, Round facial shape [more] The facial appearance is more circular than usual as viewed from the front.
Protruding ear Prominent ears Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Cerebral white matter hypoplasia Paucity of cerebral white matter Underdevelopment of the cerebral white matter.
Hypoplasia of the corpus callosum Hypoplastic corpus callosum, Hypoplasia of corpus callosum, Thin corpus callosum, Thinning of the corpus callosum [more] Underdevelopment of the corpus callosum.
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.
Cerebellar hypoplasia Hypoplastic cerebellum, Underdeveloped cerebellum, Small cerebellum, Congenital cerebellar hypoplasia [more] Underdevelopment of the cerebellum.
Depressivity Depression, Depressive disorder Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior.
Horizontal eyebrow Lack of eyebrow curvature, Lack of eyebrow arch, Straight eyebrow, Flat eyebrow [more] An eyebrow that extends straight across the brow, without curve.
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