Sponastrime dysplasia
- Synonyms
- Short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation; Spondylar and nasal alterations with striated metaphyses; Spondyloepimetaphyseal dysplasia Sponastrime type
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (4 available)
Molecular Genetics Tests
Genes See tests for all associated and related genes
Also known as: IKBR, NFKBIL2, SEMDSP, TONSL
Summary: tonsoku like, DNA repair protein
Clinical features
Help- Abnormality of head or neck
- Abnormality of the dentition
Abnormality of the dentition
- MedGen UID: 78084
- Concept ID: C0262444
- Finding: Finding
Abnormality of head or neck
- Anteverted nares
Anteverted nares
- MedGen UID: 326648
- Concept ID: C1840077
- Finding: Finding
Abnormality of head or neck
- Bulbous nose
Bulbous nose
- MedGen UID: 66013
- Concept ID: C0240543
- Finding: Finding
Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- Mandibular prognathia
Mandibular prognathia
- MedGen UID: 98316
- Concept ID: C0399526
- Finding: Finding
Abnormality of head or neck
- Midface retrusion
Midface retrusion
- MedGen UID: 339938
- Concept ID: C1853242
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Short dental root
Short dental root
- MedGen UID: 437181
- Concept ID: C2678330
- Finding: Finding
Abnormality of head or neck
- Short nose
Short nose
- MedGen UID: 343052
- Concept ID: C1854114
- Finding: Finding
Abnormality of head or neck
- Abnormality of the dentition
- Abnormality of limbs
- Brachydactyly
Brachydactyly
- MedGen UID: 67454
- Concept ID: C0221357
- Finding: Congenital Abnormality
Abnormality of limbs
- Coxa vara
Coxa vara
- MedGen UID: 1790477
- Concept ID: C5551440
- Finding: Anatomical Abnormality
Abnormality of limbs
- Delayed ossification of carpal bones
Delayed ossification of carpal bones
- MedGen UID: 374771
- Concept ID: C1841684
- Finding: Finding
Abnormality of limbs
- Genu valgum
Genu valgum
- MedGen UID: 154364
- Concept ID: C0576093
- Finding: Anatomical Abnormality
Abnormality of limbs
- Genu varum
Genu varum
- MedGen UID: 154257
- Concept ID: C0544755
- Finding: Finding
Abnormality of limbs
- Limited elbow extension
Limited elbow extension
- MedGen UID: 401158
- Concept ID: C1867103
- Finding: Finding
Abnormality of limbs
- Mesomelia
Mesomelia
- MedGen UID: 107808
- Concept ID: C0549306
- Finding: Congenital Abnormality
Abnormality of limbs
- Rhizomelia
Rhizomelia
- MedGen UID: 357122
- Concept ID: C1866730
- Finding: Congenital Abnormality
Abnormality of limbs
- Brachydactyly
- Abnormality of the endocrine system
- Congenital hypothyroidism
Congenital hypothyroidism
- MedGen UID: 41344
- Concept ID: C0010308
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Congenital hypothyroidism
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Posterior subcapsular cataract
Posterior subcapsular cataract
- MedGen UID: 163646
- Concept ID: C0858617
- Finding: Acquired Abnormality
Abnormality of the eye
- Hypertelorism
- Abnormality of the immune system
- Decreased circulating IgG concentration
Decreased circulating IgG concentration
- MedGen UID: 1720114
- Concept ID: C5234937
- Finding: Finding
Abnormality of the immune system
- Neutropenia
Neutropenia
- MedGen UID: 163121
- Concept ID: C0853697
- Finding: Finding
Abnormality of the immune system
- Decreased circulating IgG concentration
- Abnormality of the musculoskeletal system
- Biconcave vertebral bodies
Biconcave vertebral bodies
- MedGen UID: 383834
- Concept ID: C1856087
- Finding: Finding
Abnormality of the musculoskeletal system
- Delayed skeletal maturation
Delayed skeletal maturation
- MedGen UID: 108148
- Concept ID: C0541764
- Finding: Finding
Abnormality of the musculoskeletal system
- Flat capital femoral epiphysis
Flat capital femoral epiphysis
- MedGen UID: 334001
- Concept ID: C1842155
- Finding: Finding
Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Kyphoscoliosis
Kyphoscoliosis
- MedGen UID: 154361
- Concept ID: C0575158
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Lumbar hyperlordosis
Lumbar hyperlordosis
- MedGen UID: 263149
- Concept ID: C1184923
- Finding: Finding
Abnormality of the musculoskeletal system
- Lumbar interpedicular narrowing
Lumbar interpedicular narrowing
- MedGen UID: 341376
- Concept ID: C1849079
- Finding: Finding
Abnormality of the musculoskeletal system
- Malar flattening
Malar flattening
- MedGen UID: 347616
- Concept ID: C1858085
- Finding: Finding
Abnormality of the musculoskeletal system
- Metaphyseal irregularity
Metaphyseal irregularity
- MedGen UID: 325478
- Concept ID: C1838662
- Finding: Finding
Abnormality of the musculoskeletal system
- Metaphyseal striations
Metaphyseal striations
- MedGen UID: 376512
- Concept ID: C1849081
- Finding: Finding
Abnormality of the musculoskeletal system
- Metaphyseal widening
Metaphyseal widening
- MedGen UID: 341364
- Concept ID: C1849039
- Finding: Finding
Abnormality of the musculoskeletal system
- Narrow vertebral interpedicular distance
Narrow vertebral interpedicular distance
- MedGen UID: 318662
- Concept ID: C1832598
- Finding: Finding
Abnormality of the musculoskeletal system
- Osteopenia
Osteopenia
- MedGen UID: 18222
- Concept ID: C0029453
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Platyspondyly
Platyspondyly
- MedGen UID: 335010
- Concept ID: C1844704
- Finding: Finding
Abnormality of the musculoskeletal system
- Relative macrocephaly
Relative macrocephaly
- MedGen UID: 338607
- Concept ID: C1849075
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Small epiphyses
Small epiphyses
- MedGen UID: 339612
- Concept ID: C1846803
- Finding: Finding
Abnormality of the musculoskeletal system
- Spondyloepimetaphyseal dysplasia
Spondyloepimetaphyseal dysplasia
- MedGen UID: 609408
- Concept ID: C0432211
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Thoracic kyphosis
Thoracic kyphosis
- MedGen UID: 263148
- Concept ID: C1184919
- Finding: Finding
Abnormality of the musculoskeletal system
- Biconcave vertebral bodies
- Abnormality of the nervous system
- Chiari malformation
Chiari malformation
- MedGen UID: 2065
- Concept ID: C0003803
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Intellectual disability, progressive
Intellectual disability, progressive
- MedGen UID: 337397
- Concept ID: C1846149
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Chiari malformation
- Abnormality of the respiratory system
- Laryngotracheomalacia
Laryngotracheomalacia
- MedGen UID: 107947
- Concept ID: C0585984
- Finding: Anatomical Abnormality
Abnormality of the respiratory system
- Subglottic stenosis
Subglottic stenosis
- MedGen UID: 68668
- Concept ID: C0238441
- Finding: Anatomical Abnormality
Abnormality of the respiratory system
- Laryngotracheomalacia
- Growth abnormality
- Disproportionate short-limb short stature
Disproportionate short-limb short stature
- MedGen UID: 342370
- Concept ID: C1849937
- Finding: Finding
Growth abnormality
- Disproportionate short-limb short stature
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.