Thanatophoric dysplasia type 1
General Information (adopted from Orphanet):
| Synonyms, Signs: |
THANATOPHORIC DYSPLASIA LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE ACHONDROPLASIA, SEVERE, WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS, INCLUDED PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, SAN DIEGO TYPE SADDAN, INCLUDED THANATOPHORIC DWARFISM TD TD1 Thanatophoric dwarfism type 1 |
| Number of Symptoms | 67 |
| OrphanetNr: | 1860 |
| OMIM Id: |
187600
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| ICD-10: |
Q77.1 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Not applicable [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Thanatophoric dysplasia
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000077) | Abnormality of the kidney | Occasional [Orphanet] | 73 / 7739 | |||
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(HPO:0002007) | Frontal bossing | Frequent [Orphanet] | 366 / 7739 | |||
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(HPO:0000520) | Proptosis | Frequent [Orphanet] | 192 / 7739 | |||
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(HPO:0000256) | Macrocephaly | Very frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0012368) | Flat face | Very frequent [Orphanet] | 106 / 7739 | |||
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(HPO:0002676) | Cloverleaf skull | Occasional [Orphanet] | 14 / 7739 | |||
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(HPO:0005280) | Depressed nasal bridge | Very frequent [Orphanet] | 381 / 7739 | |||
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(HPO:0000274) | Small face | Very frequent [Orphanet] | 18 / 7739 | |||
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(HPO:0002677) | Small foramen magnum | 4 / 7739 | ||||
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(HPO:0000365) | Hearing impairment | Frequent [Orphanet] | 539 / 7739 | |||
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(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0002187) | Intellectual disability, profound | 44 / 7739 | ||||
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(HPO:0002652) | Skeletal dysplasia | Very frequent [Orphanet] | 113 / 7739 | |||
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(HPO:0002823) | Abnormality of the femur | Very frequent [Orphanet] | 61 / 7739 | |||
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(HPO:0000774) | Narrow chest | Very frequent [Orphanet] | 167 / 7739 | |||
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(HPO:0011867) | Abnormality of the wing of the ilium | Very frequent [Orphanet] | 123 / 7739 | |||
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(HPO:0004279) | Short palm | Very frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0000773) | Short ribs | 70 / 7739 | ||||
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(HPO:0008905) | Rhizomelia | Very frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0003185) | Short sacroiliac notch | 7 / 7739 | ||||
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(HPO:0001387) | Joint stiffness | Occasional [Orphanet] | 322 / 7739 | |||
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(HPO:0002983) | Micromelia | Very frequent [Orphanet] | 130 / 7739 | |||
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(HPO:0000944) | Abnormality of the metaphyses | Very frequent [Orphanet] | 141 / 7739 | |||
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(HPO:0100781) | Abnormality of the sacroiliac joint | Very frequent [Orphanet] | 6 / 7739 | |||
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(HPO:0003025) | Metaphyseal irregularity | 42 / 7739 | ||||
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(HPO:0003015) | Flared metaphysis | 44 / 7739 | ||||
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(HPO:0000910) | Wide-cupped costochondral junctions | 3 / 7739 | ||||
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(HPO:0005257) | Thoracic hypoplasia | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0004565) | Severe platyspondyly | 13 / 7739 | ||||
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(HPO:0006487) | Bowing of the long bones | Very frequent [Orphanet] | 95 / 7739 | |||
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(HPO:0004060) | Trident hand | Very frequent [Orphanet] | 13 / 7739 | |||
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(HPO:0003026) | Short long bone | 51 / 7739 | ||||
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(HPO:0006584) | Small abnormally formed scapulae | 4 / 7739 | ||||
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(HPO:0002808) | Kyphosis | Frequent [Orphanet] | 289 / 7739 | |||
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(HPO:0000926) | Platyspondyly | Very frequent [Orphanet] | 150 / 7739 | |||
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(HPO:0000946) | Hypoplastic ilia | 21 / 7739 | ||||
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(HPO:0001561) | Polyhydramnios | Frequent [Orphanet] | 191 / 7739 | |||
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(HPO:0001558) | Decreased fetal movement | 74 / 7739 | ||||
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(HPO:0010880) | Increased nuchal translucency | Frequent [Orphanet] | 13 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0003510) | Severe short stature | 90 / 7739 | ||||
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(HPO:0008909) | Lethal short-limbed short stature | 4 / 7739 | ||||
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(HPO:0001582) | Redundant skin | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0000956) | Acanthosis nigricans | Occasional [Orphanet] | 54 / 7739 | |||
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(HPO:0100678) | Premature skin wrinkling | Frequent [Orphanet] | 25 / 7739 | |||
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(HPO:0001643) | Patent ductus arteriosus | Occasional [Orphanet] | 228 / 7739 | |||
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(HPO:0004763) | Paroxysmal supraventricular tachycardia | 10 / 7739 | ||||
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(HPO:0001631) | Atria septal defect | Occasional [Orphanet] | 274 / 7739 | |||
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(HPO:0002093) | Respiratory insufficiency | Very frequent [Orphanet] | 410 / 7739 | |||
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(HPO:0006703) | Aplasia/Hypoplasia of the lungs | Frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Very frequent [Orphanet] | 990 / 7739 | |||
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(OMIM) | Marked shortness and bowing of long bones | 2 / 7739 | ||||
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(OMIM) | Prenatal diagnosis by ultrasound | 5 / 7739 | ||||
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(HPO:0000238) | Hydrocephalus | Occasional [Orphanet] | 278 / 7739 | |||
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(HPO:0003811) | Neonatal death | 44 / 7739 | ||||
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(HPO:0002536) | Abnormal cortical gyration | Occasional [Orphanet] | 72 / 7739 | |||
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(HPO:0002282) | Heterotopia | 21 / 7739 | ||||
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(OMIM) | Profound mental retardation and hypotonia in survivors | 2 / 7739 | ||||
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(OMIM) | Cloverleaf skull rarely | 2 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(OMIM) | Temporal lobe heterotopias | 2 / 7739 | ||||
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(HPO:0011420) | Death | Very frequent [Orphanet] | 184 / 7739 | |||
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(OMIM) | Severe growth deficiency in survivors | 2 / 7739 | ||||
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(HPO:0002119) | Ventriculomegaly | Frequent [Orphanet] | 253 / 7739 | |||
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(OMIM) | 'French telephone receiver femurs' | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman et al. (1992) classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients ... |
| Diagnosis OMIM |
- Prenatal Diagnosis In utero diagnosis was demonstrated by Keats et al. (1970). Although prenatal diagnosis of TD had been accomplished by ultrasonography in the second trimester (Schild et al., 1996), it was not ... |
| Clinical Description OMIM |
Maroteaux et al. (1967) referred to patients with micromelic dwarfism who died in the first hours of life as having 'thanatophoric dwarfism.' The ribs and bones of the extremities were very short and the vertebral bodies were greatly ... |
| Genotype-Phenotype Correlations OMIM |
Wilcox et al. (1998) examined the clinical, radiographic, and histologic findings in 91 cases with FGFR3 mutations from the International Skeletal Dysplasia Registry. The most common mutation was R248C (134934.0005), occurring in 45 (50%) cases, and the second ... |
| Molecular genetics OMIM |
Reardon et al. (1994) noted that fibroblast growth factor receptor-3 (FGFR3; 134934), which is mutant in achondroplasia, is structurally very similar to FGFR2. Their observation that FGFR2 mutations cause craniosynostosis suggested to them that the lethal skeletal disorder ... |
| Population genetics OMIM |
Camera and Mastroiacovo (1982) identified 13 cases of thanatophoric dysplasia among 217,061 Italian births. All were sporadic. In the same series, there were 8 cases of achondroplasia (100800) and 1 case each of camptomelic dysplasia (114290), Ellis-van Creveld ... |