Chondrodysplasia punctata, Toriello type

Also known as: Toriello-Higgins-Miller syndrome

Definition

Orphanet

Chondrodysplasia punctata, Toriello type is a rare, non-rhizomelic, primary bone dysplasia syndrome characterized by calcific stippling of epiphyses in association with minor facial abnormalities, short stature and ocular colobomata. In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. Complex congenital cardiac disease and central nervous system anomalies (including partial absence of corpus callosum, small vermis, enlargement of the cisterna magna and/or of the anterior horns of the lateral ventricles) have been reported.

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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.
Low-set ears Melotia, Lowset ears Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Agenesis of corpus callosum Agenesis of the corpus callosum, Dysplastic or absent corpus callosum, Absence of corpus callosum, Absent corpus callosum, Callosal agenesis [more] Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.
Flat face Flat facies, Flat facial profile, Flat facial shape [more] Absence of concavity or convexity of the face when viewed in profile.
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.
Deep palmar crease Deep palm line Excessively deep creases of the palm.
Short stature Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [more] A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Calcific stippling Discrete calcific stippling An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs).
Shortening of all distal phalanges of the fingers Brachytelephalangy, Shortening of all outermost bones of the fingers Hypoplasia of all of the distal phalanx of finger.
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.
Short nose Small nose, Hypoplastic nose, Shortened nose, Decreased length of nose, Nasal hypoplasia [more] Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.

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