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Spondylometaphyseal dysplasia Sedaghatian type(SMDS)

MedGen UID:
340816
Concept ID:
C1855229
Disease or Syndrome
Synonyms: Lethal metaphyseal dysplasia; METAPHYSEAL CHONDRODYSPLASIA, CONGENITAL LETHAL; SEDAGHATIAN CHONDRODYSPLASIA; SMDS
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): GPX4 (19p13.3)
OMIM®: 250220
Orphanet: ORPHA93317

Definition

Sedaghatian-type spondylometaphyseal dysplasia (SMDS) is a rare lethal disorder characterized by severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, and pulmonary hemorrhage. Affected infants present with severe hypotonia and cardiorespiratory problems; most die within days of birth due to respiratory failure. Cardiac abnormalities include conduction defects, complete heart block, and structural anomalies. Half of infants with SMDS are reported to have central nervous system malformations consistent with abnormal neuronal migration, including agenesis of the corpus callosum, pronounced frontotemporal pachygyria, simplified gyral pattern, partial lissencephaly, and severe cerebellar hypoplasia (summary by Smith et al., 2014). [from OMIM]

Clinical features

Arrhythmia
MedGen UID:
167788
Concept ID:
C0855329
Finding
Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
Talipes equinovarus
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Short toe
MedGen UID:
322858
Concept ID:
C1836195
Finding
A toe that appears disproportionately short compared to the foot.
Flat acetabular roof
MedGen UID:
373340
Concept ID:
C1837485
Finding
Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.
Short finger
MedGen UID:
334977
Concept ID:
C1844548
Anatomical Abnormality
Abnormally short finger associated with developmental hypoplasia.
Long fibula
MedGen UID:
338386
Concept ID:
C1848109
Finding
Disproportionately long fibulae.
Cone-shaped metacarpal epiphyses
MedGen UID:
343300
Concept ID:
C1855239
Anatomical Abnormality
A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones.
Irregular tarsal bones
MedGen UID:
381591
Concept ID:
C1855240
Finding
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely.
Short ribs
MedGen UID:
98094
Concept ID:
C0426817
Finding
Reduced rib length.
Narrow greater sacrosciatic notches
MedGen UID:
154353
Concept ID:
C0566888
Finding
A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium.
Spondyloepimetaphyseal dysplasia Strudwick type
MedGen UID:
147134
Concept ID:
C0700635
Finding
The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature, pectus carinatum, and scoliosis, as well as dappled metaphyses (summary by Tiller et al., 1995).
Short toe
MedGen UID:
322858
Concept ID:
C1836195
Finding
A toe that appears disproportionately short compared to the foot.
Flat acetabular roof
MedGen UID:
373340
Concept ID:
C1837485
Finding
Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.
11 pairs of ribs
MedGen UID:
326950
Concept ID:
C1839731
Finding
Presence of only 11 pairs of ribs.
Short finger
MedGen UID:
334977
Concept ID:
C1844548
Anatomical Abnormality
Abnormally short finger associated with developmental hypoplasia.
Long fibula
MedGen UID:
338386
Concept ID:
C1848109
Finding
Disproportionately long fibulae.
short long bones
MedGen UID:
344385
Concept ID:
C1854912
Finding
One or more abnormally short long bone.
Cone-shaped metacarpal epiphyses
MedGen UID:
343300
Concept ID:
C1855239
Anatomical Abnormality
A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones.
Irregular tarsal bones
MedGen UID:
381591
Concept ID:
C1855240
Finding
Iliac crest serration
MedGen UID:
387761
Concept ID:
C1857186
Finding
Irregularities of the iliac crest that produce the appearance of a lace border around it.
Cone-shaped epiphyses of the phalanges of the hand
MedGen UID:
347156
Concept ID:
C1859480
Finding
A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.
Delayed epiphyseal ossification
MedGen UID:
351324
Concept ID:
C1865200
Finding
Flared iliac wings
MedGen UID:
356097
Concept ID:
C1865841
Finding
Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing.
Widened sacrosciatic notch
MedGen UID:
870186
Concept ID:
C4024620
Anatomical Abnormality
The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch.
Oxycephaly
MedGen UID:
10522
Concept ID:
C0030044
Congenital Abnormality
Premature closing of the lambdoid and coronal sutures.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpondylometaphyseal dysplasia Sedaghatian type
Follow this link to review classifications for Spondylometaphyseal dysplasia Sedaghatian type in Orphanet.

Recent clinical studies

Diagnosis

Aygun C, Celik FC, Nural MS, Azak E, Kucukoduk S, Ogur G, Incesu L
Am J Med Genet A 2012 Jun;158A(6):1400-5. Epub 2012 Apr 23 doi: 10.1002/ajmg.a.35306. PMID: 22529034
Mahendran SM, Wilcox FL, Chirumamila L
J Obstet Gynaecol 2007 Nov;27(8):851-3. doi: 10.1080/01443610701803701. PMID: 18097914
Kerr B, Smith V, Patel R, Ladusans E, Sillence DO
Clin Dysmorphol 2000 Jul;9(3):167-72. PMID: 10955475
Elçioglu N, Hall CM
Am J Med Genet 1998 Apr 13;76(5):410-4. PMID: 9556300
Peeden JN Jr, Rimoin DL, Lachman RS, Dyer ML, Gerard D, Gruber HE
Am J Med Genet 1992 Nov 15;44(5):651-6. doi: 10.1002/ajmg.1320440525. PMID: 1481828

Therapy

Peeden JN Jr, Rimoin DL, Lachman RS, Dyer ML, Gerard D, Gruber HE
Am J Med Genet 1992 Nov 15;44(5):651-6. doi: 10.1002/ajmg.1320440525. PMID: 1481828

Prognosis

Aygun C, Celik FC, Nural MS, Azak E, Kucukoduk S, Ogur G, Incesu L
Am J Med Genet A 2012 Jun;158A(6):1400-5. Epub 2012 Apr 23 doi: 10.1002/ajmg.a.35306. PMID: 22529034
Mahendran SM, Wilcox FL, Chirumamila L
J Obstet Gynaecol 2007 Nov;27(8):851-3. doi: 10.1080/01443610701803701. PMID: 18097914
Kerr B, Smith V, Patel R, Ladusans E, Sillence DO
Clin Dysmorphol 2000 Jul;9(3):167-72. PMID: 10955475
Elçioglu N, Hall CM
Am J Med Genet 1998 Apr 13;76(5):410-4. PMID: 9556300
Peeden JN Jr, Rimoin DL, Lachman RS, Dyer ML, Gerard D, Gruber HE
Am J Med Genet 1992 Nov 15;44(5):651-6. doi: 10.1002/ajmg.1320440525. PMID: 1481828

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