Osteosclerosis - Stanescu type

MedGen UID:: 140931
•Concept ID:: C0432263
•: Disease or Syndrome

Synonyms:	Craniofacial dysostosis with diaphyseal hyperplasia; Dysostosis Stanescu type
SNOMED CT:	Osteosclerosis - Stanescu type (254124008)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0007396
OMIM®:	122900
Orphanet:	ORPHA1798

Definition

Stanescu type dysostosis is a rare form of osteosclerosis. [from ORDO]

Clinical features

From HPO

Craniofacial dysostosis

MedGen UID:: 1162
•Concept ID:: C0010273
•: Disease or Syndrome

Crouzon syndrome is an autosomal dominant disorder characterized by craniosynostosis causing secondary alterations of the facial bones and facial structure. Common features include hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism (Reardon et al., 1994; Glaser et al., 2000).

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Proptosis

MedGen UID:: 41917
•Concept ID:: C0015300
•: Disease or Syndrome

An eye that is protruding anterior to the plane of the face to a greater extent than is typical.

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Micromelia

MedGen UID:: 10031
•Concept ID:: C0025995
•: Congenital Abnormality

The presence of abnormally small extremities.

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Brachycephaly

MedGen UID:: 113165
•Concept ID:: C0221356
•: Congenital Abnormality

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.

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Brachydactyly

MedGen UID:: 67454
•Concept ID:: C0221357
•: Congenital Abnormality

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.

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Limb undergrowth

MedGen UID:: 116086
•Concept ID:: C0239399
•: Finding

Limb shortening because of underdevelopment of one or more bones of the extremities.

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Short stature

MedGen UID:: 87607
•Concept ID:: C0349588
•: Finding

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).

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Kyphoscoliosis