X-linked intellectual disability-plagiocephaly syndrome

Also known as: Hyde Forster-McCarthy-Berry syndrome

Definition

Orphanet

X-linked intellectual disability-plagiocephaly syndrome is characterised by severe intellectual deficit, brachycephaly, plagiocephaly, prominent forehead and coarse facial features. It has been described in two males from one family. Two females belonging to the same family displayed moderate intellectual deficit but no craniofacial dysmorphism.

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Symptoms

Medical Term Other Names Description
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.
Prominent forehead Protruding forehead, Prominence of frontal region, Pronounced forehead, Bulging forehead [more] Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Coarse facial features Thickened facial skin with coarse facial features, Coarse facial appearance, Coarse facies, Rounded and heavy facial features, Coarse face [more] Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Plagiocephaly Flat head, Rhomboid shaped head, Asymmetry of the posterior head, Flattening of cranial vault, Flattening of skull, Flattening of cranium, Rhomboid shaped skull, Flattening of head, Deformational plagiocephaly, Rhomboid shaped cranium, Asymmetry of the posterior skull, Asymmetry of the posterior cranium, Positional plagiocephaly [more] Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape.
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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