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Disease Profile

Spondylometaphyseal dysplasia Sedaghatian type

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Antenatal

ICD-10

Q77.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Lethal metaphyseal dysplasia

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 93317

Definition
Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.

Epidemiology
Nine cases have been reported so far in patients of Iranian, Yemeni and Caucasian origin.

Clinical description
A lacy appearance of the iliac crests, long fibulae, abnormal tarsal bones, cardiac arrhythmia, and intracranial anomalies have been described. Intrauterine growth is normal. The majority of patients die in the first days of life with symptoms of cardiorespiratory insufficiency. Subacute myocarditis, cortical necrosis of kidneys, adrenal and pulmonary hemorrhage, absence of the corpus callosum and marked frontotemporal pachygyria have been found at autopsy.

Etiology
Etiology remains unknown.

Genetic counseling
Autosomal recessive inheritance has been suggested.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal scapula morphology
Abnormality of the shoulder blade
0000782
Abnormality of the ribs
Rib abnormalities
0000772
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat

[ more ]

0011675
Atrioventricular block
Interruption of electrical communication between upper and lower chambers of heart
0001678
Cardiorespiratory arrest
0006543
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
Iliac crest serration
0008786
Long fibula
Long calf bone
0003085
Metaphyseal chondrodysplasia
0005871
Platyspondyly
Flattened vertebrae
0000926
Rhizomelic arm shortening
0004991
Short metacarpal
Shortened long bone of hand
0010049
Short palm
0004279
Spondylometaphyseal dysplasia
0002657
30%-79% of people have these symptoms
Cerebellar hypoplasia
Small cerebellum
Underdeveloped cerebellum

[ more ]

0001321
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Narrow chest
Low chest circumference
Narrow shoulders

[ more ]

0000774
Turricephaly
Tall shaped skull
Tower skull shape

[ more ]

0000262
5%-29% of people have these symptoms
Accelerated skeletal maturation
Advanced bone age
Early bone maturation

[ more ]

0005616
Agenesis of corpus callosum
0001274
Cone-shaped epiphysis
Cone-shaped end part of bone
0010579
Myocarditis
Inflammation of heart muscle
0012819
Pachygyria
Fewer and broader ridges in brain
0001302
Percent of people who have these symptoms is not available through HPO
11 pairs of ribs
0000878
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers

[ more ]

0001631
Autosomal recessive inheritance
0000007
Brachydactyly
Short fingers or toes
0001156
Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped end part of finger bones
0010230
Cone-shaped metacarpal epiphyses
Cone-shaped end part of long bone
0006059
Cupped ribs
Rib cupping
0000887
Delayed epiphyseal ossification
0002663
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root

[ more ]

0005280
Flared iliac wings
0002869
Flat acetabular roof
0003180
Focal lissencephaly
0007187
Horizontal inferior border of scapula
0031233
Irregular tarsal bones
Abnormal shape of ankle bones
0004688
Large posterior fontanelle
0004491
Metaphyseal cupping
0003021
Metaphyseal irregularity
Irregular wide portion of a long bone
0003025
Narrow greater sciatic notch
0003375
Porencephalic cyst
Cavity within brain
0002132
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Redundant skin
Loose redundant skin
Redundant skin folds
Sagging, redundant skin

[ more ]

0001582
Rhizomelia
Disproportionately short upper portion of limb
0008905
Short finger
Stubby finger
0009381
Short long bone
Long bone shortening
0003026
Short neck
Decreased length of neck
0000470
Short phalanx of finger
Short finger bones
0009803
Short ribs
0000773
Short toe
Short toes
Stubby toes

[ more ]

0001831
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762
Widened greater sciatic notch
0008798

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Spondylometaphyseal dysplasia Sedaghatian type. Click on the link to view a sample search on this topic.