Cranioectodermal dysplasia

Also known as: CED, Sensenbrenner syndrome

Definition

Genetics Home Reference

Cranioectodermal dysplasia is a disorder that affects many parts of the body. The most common features involve bone abnormalities and abnormal development of certain tissues known as ectodermal tissues, which include the skin, hair, nails, and teeth. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.

Distinctive abnormalities of the skull and face are common in people with cranioectodermal dysplasia. Most affected individuals have a prominent forehead (frontal bossing) and an elongated head (dolichocephaly) due to abnormal fusion of certain skull bones (sagittal craniosynostosis). A variety of facial abnormalities can occur in people with this condition; these include low-set ears that may also be rotated backward, an increased distance between the inner corners of the eyes (telecanthus), and outside corners of the eyes that point upward or downward (upslanting or downslanting palpebral fissures) among others.

Development of bones in the rest of the skeleton is also affected in this condition. Abnormalities in the long bones of the arms and legs (metaphyseal dysplasia) lead to short limbs and short stature. In addition, affected individuals often have short fingers (brachydactyly). Some people with this condition have short rib bones and a narrow rib cage, which can cause breathing problems, especially in affected newborns.

Abnormal development of ectodermal tissues in people with cranioectodermal dysplasia can lead to sparse hair, small or missing teeth, short fingernails and toenails, and loose skin.

Cranioectodermal dysplasia can affect additional organs and tissues in the body. A kidney disorder known as nephronophthisis occurs in many people with this condition, and it can lead to a life-threatening failure of kidney function known as end-stage renal disease. Abnormalities of the liver, heart, or eyes also occur in people with cranioectodermal dysplasia.

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Orphanet

Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

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Symptoms

Medical Term Other Names Description
Low-set ears M,
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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.
Downslanted palpebral fissures D,
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The palpebral fissure inclination is more than two standard deviations below the mean.
Frontal bossing S,
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Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Short stature D,
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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).
Stage 5 chronic kidney disease R,
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A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.
Abnormality of the skull A,
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An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones.
Rod-cone dystrophy R,
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An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
Abnormality of the liver A,
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An abnormality of the liver.
Craniosynostosis P,
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Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
Abnormality of the face A,
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An abnormality of the face.
Short finger S,
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Abnormally short finger associated with developmental hypoplasia.
Sparse hair T,
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Reduced density of hairs.
Nephronophthisis Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis.
Dolichocephaly N,
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An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Hepatitis L,
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Inflammation of the liver.
Hepatic fibrosis The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.
Telecanthus D,
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Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Sagittal craniosynostosis C,
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A kind of craniosynostosis affecting the sagittal suture.
Metaphyseal dysplasia The presence of dysplastic regions in metaphyseal regions.
Brachydactyly Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Short ribs R,
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Reduced rib length.
Agenesis of permanent teeth M,
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A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth.
Prominent forehead P,
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[more]
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Limb undergrowth l,
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[more]
Limb shortening because of underdevelopment of one or more bones of the extremities.

Other Classifiers and IDs