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Calvarial doughnut lesions-bone fragility syndrome(CDL)

MedGen UID:: 377572
•Concept ID:: C1852022
•: Disease or Syndrome

Synonym:	Doughnut lesions of skull, familial
SNOMED CT:	Doughnut lesion of calvaria and bone fragility syndrome (720598005); Calvarial doughnut lesion with bone fragility syndrome (720598005); Familial doughnut lesions of skull (720598005)
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.	SGMS2 (4q25)

Monarch Initiative:	MONDO:0007470
OMIM®:	126550
Orphanet:	ORPHA85192

Definition

Calvarial doughnut lesions with bone fragility (CDL) is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones. Some more severely affected individuals exhibit neonatal onset of fractures, severe short stature, marked cranial sclerosis, and spondylometaphyseal dysplasia (CDLSMD) (Pekkinen et al., 2019). [from OMIM]

Clinical features

From HPO

Severe short stature

MedGen UID:: 3931
•Concept ID:: C0013336
•: Disease or Syndrome

A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.

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Mixed hearing impairment

MedGen UID:: 102336
•Concept ID:: C0155552
•: Disease or Syndrome

A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.

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Motor delay

MedGen UID:: 381392
•Concept ID:: C1854301
•: Finding

A type of Developmental delay characterized by a delay in acquiring motor skills.

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Recurrent fractures

MedGen UID:: 42094
•Concept ID:: C0016655
•: Injury or Poisoning

The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).

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Osteopenia

MedGen UID:: 18222
•Concept ID:: C0029453
•: Disease or Syndrome

Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.

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Osteoporosis

MedGen UID:: 14535
•Concept ID:: C0029456
•: Disease or Syndrome

Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).

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Scoliosis

MedGen UID:: 11348
•Concept ID:: C0036439
•: Disease or Syndrome

The presence of an abnormal lateral curvature of the spine.

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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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Thickened calvaria

MedGen UID:: 346823
•Concept ID:: C1858452
•: Finding

The presence of an abnormally thick calvaria.

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Femoral bowing

MedGen UID:: 347888
•Concept ID:: C1859461
•: Finding

Bowing (abnormal curvature) of the femur.

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Elevated circulating alkaline phosphatase concentration

MedGen UID:: 727252
•Concept ID:: C1314665
•: Finding

Abnormally increased serum levels of alkaline phosphatase activity.

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Carious teeth

MedGen UID:: 8288
•Concept ID:: C0011334
•: Disease or Syndrome

Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.

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