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Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome(MDMHB)

MedGen UID:: 762788
•Concept ID:: C3549874
•: Disease or Syndrome

Synonyms:	METAPHYSEAL DYSPLASIA AND MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY; Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly
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)

Gene (location): Gene(s) directly associated with this condition or phenotype.	RUNX2 (6p21.1)

Monarch Initiative:	MONDO:0007984
OMIM®:	156510
Orphanet:	ORPHA2504

Definition

Metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly (MDMHB) is an autosomal dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth (summary by Moffatt et al., 2013). [from OMIM]

Clinical features

From HPO

Short middle phalanx of the 5th finger

MedGen UID:: 322335
•Concept ID:: C1834060
•: Anatomical Abnormality

Hypoplastic/small middle phalanx of the fifth finger.

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Short 5th metacarpal

MedGen UID:: 348858
•Concept ID:: C1861388
•: Finding

Short fifth metacarpal bone.

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Short middle phalanx of the 2nd finger

MedGen UID:: 867077
•Concept ID:: C4021435
•: Anatomical Abnormality

Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger.

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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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Hypoplasia of the maxilla

MedGen UID:: 66804
•Concept ID:: C0240310
•: Congenital Abnormality

Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.

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Platyspondyly

MedGen UID:: 335010
•Concept ID:: C1844704
•: Finding

A flattened vertebral body shape with reduced distance between the vertebral endplates.

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Flared metaphysis

MedGen UID:: 337976
•Concept ID:: C1850135
•: Finding

The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.

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Multiple small vertebral fractures

MedGen UID:: 870665
•Concept ID:: C4025119
•: Injury or Poisoning

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Osteoporosis of vertebrae

MedGen UID:: 870716
•Concept ID:: C4025170
•: Disease or Syndrome

Osteoporosis affecting predominantly the vertebrae.

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Metaphyseal dysplasia

MedGen UID:: 1677924
•Concept ID:: C5194606
•: Disease or Syndrome

The presence of dysplastic regions in metaphyseal regions.

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Premature loss of teeth

MedGen UID:: 66678
•Concept ID:: C0232513
•: Finding

Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.

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Convex nasal ridge

MedGen UID:: 66809
•Concept ID:: C0240538
•: Finding

Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.

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Thin vermilion border

MedGen UID:: 108294
•Concept ID:: C0578038
•: Finding

Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).

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Short philtrum

MedGen UID:: 350006
•Concept ID:: C1861324
•: Finding

Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.

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