Thanatophoric Dysplasia, Type I; Td1

Description

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 with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) (Langer et al., 1987).

Clinical Features

Top most frequent phenotypes and symptoms related to Thanatophoric Dysplasia, Type I; Td1

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly
  • Macrocephaly
  • Frontal bossing
  • Abnormality of the skeletal system

And another 54 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Thanatophoric Dysplasia, Type I; Td1 Is also known as thanatophoric dysplasia, lethal short-limbed platyspondylic dwarfism, san diego type, thanatophoric dwarfism, td, platyspondylic lethal skeletal dysplasia, san diego type.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Thanatophoric Dysplasia, Type I; Td1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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SHH, STIL, SIX3, TUBA8, SLC25A19, DEAF1, ARFGEF2, RAB3GAP1, CENPJ, NDE1, FKRP, ARX, ASPM, POMGNT1, POMT2, TUBA1A, COL4A1, CPT2, WDR62, DCX , (...)

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Specificity
3 %
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Epilepsy Advanced Sequencing and CNV Evaluation.

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SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

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Non-immune Hydrops Panel.

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RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)

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SLC26A2, SOX9, TRPV4, COL1A2, COMP, FGFR3, FLNA, HSPG2
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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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