Cono-spondylar dysplasia
Synonyms: Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cono-spondylar dysplasia | Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome |
| fr | Dysplasie cono-spondylaire | Syndrome de petite taille-cyphose-hypoplasie des ailes iliaques-épiphyses coniques-dysmorphie faciale |
| de | Cono-spondyläre Dysplasie | Kleinwuchs-Kyphose-Hypoplasie der basalen Ilia-Zapfenepiphysen-Gesichtsdysmorphie-Syndrom |
| es | Displasia cono-espondilar | Síndrome de talla baja-cifosis-hipoplasia de las alas ilíacas-epífisis cónica-dismorfia facial |
| it | Displasia cono-spondilare | Sindrome bassa statura-cifosi-ipoplasia delle ali iliache-epifisi a cono-dismorfismi facciali |
| nl | Cono-spondylaire dysplasie | Kleine gestalte - kyfose - hypoplasie van ala ossis ilii - kegelvormige epifysen - faciale dysmorfie-syndroom |
| pt | Displasia cono-espondilar | |
| pl | Dysplazja stożkowo-kręgowa | Zespół niskiego wzrostu, kifozy, hipoplazji nasady kości biodrowej, stożkowatych nasad i dysmorfii twarzy |
| cs | Kono-spondylární dysplázie | Syndrom zahrnující malý vzrůst, kyfózu, hypoplázii baze kosti kyčelní, kuželovité epifýzy a faciální dysmorfismus |
| uk | Коно-спондилярна дисплазія | Синдром низькорослості - кіфозу - гіпоплазії базальних епіфізів клубових кісток - дисморфізму обличчя |
| zh | 椎间突发育不良 | 短小身材-脊柱后凸-髂骨畸形-锥形骨骺-面部畸形综合征 |
| tr | Kono-spondiler displazi | Kısa boy-kifozis-bazal ilya-hipoplazi-koni epifiz-fasiyal dismorfizm sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | attributed | validated |
| MONDO | 0018490 | E | validated | |
| UMLS | C4707860 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 24975242[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24975242[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
26 annotations · validated 2016-10-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000943 | Dysostosis multiplex | |
| HP:0001252 | Hypotonia | |
| Very frequent (99-80%) | ||
| HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand | |
| HP:0010864 | Intellectual disability, severe | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0000463 | Anteverted nares | |
| HP:0001156 | Brachydactyly | |
| HP:0002656 | Epiphyseal dysplasia | |
| HP:0001508 | Failure to thrive | |
| HP:0000316 | Hypertelorism | |
| HP:0002808 | Kyphosis | |
| HP:0000369 | Low-set ears | |
| HP:0011800 | Midface retrusion | |
| HP:0002370 | Poor coordination | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0011344 | Severe global developmental delay | |
| HP:0008093 | Short 4th toe | |
| HP:0001799 | Short nail | |
| HP:0000470 | Short neck | |
| Occasional (29-5%) | ||
| HP:0012537 | Food intolerance | |
| HP:0001338 | Partial agenesis of the corpus callosum | |
| HP:0001561 | Polyhydramnios | |
| HP:0005792 | Short humerus | |
| HP:0006385 | Short lower limbs | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 24975242[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/420794
- This record as JSON: /data/d/420794.json