Thanatophoric dysplasia

Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape.



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Narrow down the case reports



Total: 107 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(65.0%)		 24075385
 Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II.
Chen CP, Chang TY, Lin MH, Chern SR, Su JW, Wang W.
Taiwan J Obstet Gynecol. 2013;52(3):420-5.
Brachydactyly Frontal bossing Micromelia Short femur
FGFR3
c|SUB|AAG||GAG c|SUB|A|1948|G;RS#:78311289 p|SUB|K|650|E;RS#:78311289
Adult Differential Diagnosis Females Femur Homo sapiens Hydrocephalus Point Mutation Pregnancy Thanatophoric Dysplasia Ultrasonography
2
(64.8%)		 26043509
 Thanatophoric dysplasia type 1 with cloverleaf skull in a dichorionic twin.
Salinas-Torres VM.
Genet Couns. 2015;26(1):61-5.
Short ribs Cloverleaf skull Short femur
Craniosynostosis Fatal Outcome Females Homo sapiens Infant, Newborn Thanatophoric Dysplasia
3
(63.2%)		 23551494
 Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I.
Itoh K, Pooh R, Kanemura Y, Yamasaki M, Fushiki S.
Neuropathology. 2013;33(6):663-6.
Cloverleaf skull Short femur
FGFR3 TLX1NB
p|SUB|R|248|C;RS#:121913482
Brain Females Fetus Homo sapiens Pregnancy Stillbirth Thanatophoric Dysplasia Ultrasonography, Prenatal
3
(63.2%)		 11241532
 Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia.
Chen CP, Chern SR, Shih JC, Wang W, Yeh LF, Chang TY, Tzen CY.
Prenat Diagn. 2001;21(2):89-95.
Macrocephaly Short femur
TLX1NB
c|SUB|A|1948|G c|SUB|C|742|T p|SUB|K|650|E p|SUB|R|248|C
Adult DNA Restriction Enzymes Females Fibroblast Growth Factor Receptors Gestational Age Homo sapiens Mutation Polymerase Chain Reaction Pregnancy Protein Tyrosine Kinase Thanatophoric Dysplasia Ultrasonography, Prenatal
5
(61.4%)		 3499843
 [Cloverleaf skull associated with generalized bone defects close to asphyxiating thoracic dysplasia].
Benallegue A, Lacete F, Maroteaux P.
Ann Genet. 1987;30(2):113-7.
Short ribs Cloverleaf skull Micromelia
Asphyxia Neonatorum Bone Diseases Bone and Bones Chest Females Homo sapiens Infant, Newborn Male Osteochondrodysplasias
6
(60.5%)		 19014058
 Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue.
Orhan D, Balci S, Deren O, Utine EG, Basaran A, Kale G.
Turk J Pediatr. 2008;50(4):395-9.
Micrognathia Bifid tongue
Females Homo sapiens Micrognathism Pregnancy Syndrome Thanatophoric Dysplasia Tongue Ultrasonography, Prenatal Young Adult
7
(59.8%)		 26675119
 Thanatophoric Dysplasia: A Case Report.
Sharma M, Jyoti , Jain R.
J Clin Diagn Res. 2015;9(11):QD01-3.
Macrocephaly Micromelia
FGFR3
8
(58.5%)		 30226972
 A THANATOPHORIC DYSPLASIA TYPE I CASE WITH A FGFR3 P.R248C MUTATION AND SURVIVAL BEYOND THE NEONATAL PERIOD.
Sahin S, Ograg H, Aslan EA, Akcan AB, Turkmen MK, Moosa S, Elcioglu NH.
Genet Couns. 2016;27(4):513-517.
Short ribs Frontal bossing
FGFR3 FGFR3P1 TLX1NB
p|SUB|R|248|C;RS#:121913482
DNA Mutational Analysis Fatal Outcome Genetic Carrier Screening Homo sapiens Infant Infant, Newborn Thanatophoric Dysplasia Ultrasonography, Prenatal
8
(58.5%)		 17048442
 Thanatophoric dysplasia: roentgenographic findings and detection of a de novo mutation of FGFR3 gene in a Thai patient.
Wattanasirichaigoon D, Charoenpipop D.
J Med Assoc Thai. 2006;89(8):1287-92.
Short ribs Frontal bossing
FGFR3
p|SUB|R|248|C;RS#:121913482
Females Homo sapiens Infant, Newborn Male Mutation Pregnancy Pregnancy Outcome Thailand Thanatophoric Dysplasia
10
(57.3%)		 28254233
 Perinatal imaging findings and molecular genetic analysis ofthanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3.
Chen SW, Chen CP, Wang LK, Chern SR, Wu PC, Chen YN, Lin CJ, Chen WL, Wang W.
Taiwan J Obstet Gynecol. 2017;56(1):87-92.
Macrocephaly Short ribs
FGFR3 TLX1NB
c|SUB|T|2419|G;RS#:121913101 p|SUB|X|807|G;RS#:121913101
Adult Females Homo sapiens Mutation Pregnancy Pregnancy Trimester, Second Sequence Analysis, DNA Thanatophoric Dysplasia Ultrasonography, Prenatal
        

Phenotype(s) retrieved from Orphanet

    Total: 41

HPO ID Term Frequency
HP:0000256 Macrocephaly Very frequent (99-80%)
HP:0000774 Narrow chest Very frequent (99-80%)
HP:0000926 Platyspondyly Very frequent (99-80%)
HP:0000944 Abnormality of the metaphysis Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001582 Redundant skin Very frequent (99-80%)
HP:0002089 Pulmonary hypoplasia Very frequent (99-80%)
HP:0002187 Intellectual disability, profound Very frequent (99-80%)
HP:0002652 Skeletal dysplasia Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0008873 Disproportionate short-limb short stature Very frequent (99-80%)
HP:0010306 Short thorax Very frequent (99-80%)
HP:0010880 Increased nuchal translucency Very frequent (99-80%)
HP:0012368 Flat face Very frequent (99-80%)
HP:0000365 Hearing impairment Frequent (79-30%)
HP:0000520 Proptosis Frequent (79-30%)
HP:0001156 Brachydactyly Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0002007 Frontal bossing Frequent (79-30%)
HP:0002119 Ventriculomegaly Frequent (79-30%)
HP:0002282 Gray matter heterotopia Frequent (79-30%)
HP:0011800 Midface retrusion Frequent (79-30%)
HP:0000077 Abnormality of the kidney Occasional (29-5%)
HP:0000238 Hydrocephalus Occasional (29-5%)
HP:0000369 Low-set ears Occasional (29-5%)
HP:0000494 Downslanted palpebral fissures Occasional (29-5%)
HP:0000956 Acanthosis nigricans Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001385 Hip dysplasia Occasional (29-5%)
HP:0001387 Joint stiffness Occasional (29-5%)
HP:0001561 Polyhydramnios Occasional (29-5%)
HP:0001631 Atrial septal defect Occasional (29-5%)
HP:0001643 Patent ductus arteriosus Occasional (29-5%)
HP:0002093 Respiratory insufficiency Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0002676 Cloverleaf skull Occasional (29-5%)
HP:0002808 Kyphosis Occasional (29-5%)
HP:0002867 Abnormality of the ilium Occasional (29-5%)
HP:0005692 Joint hyperflexibility Occasional (29-5%)
HP:0100781 Abnormality of the sacroiliac joint Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 36

HPO ID Term # of case reports
HP:0002676 Cloverleaf skull 16
HP:0002652 Skeletal dysplasia 14
HP:0005716 Lethal skeletal dysplasia 7
HP:0000238 Hydrocephalus 3
HP:0000956 Acanthosis nigricans 3
HP:0000256 Macrocephaly 2
HP:0002089 Pulmonary hypoplasia 2
HP:0002093 Respiratory insufficiency 2
HP:0000347 Micrognathia 1
HP:0000773 Short ribs 1
HP:0000888 Horizontal ribs 1
HP:0000926 Platyspondyly 1
HP:0001159 Syndactyly 1
HP:0001321 Cerebellar hypoplasia 1
HP:0001561 Polyhydramnios 1
HP:0001582 Redundant skin 1
HP:0002007 Frontal bossing 1
HP:0002098 Respiratory distress 1
HP:0002119 Ventriculomegaly 1
HP:0002243 Protein-losing enteropathy 1
HP:0002655 Spondyloepiphyseal dysplasia 1
HP:0002878 Respiratory failure 1
HP:0003097 Short femur 1
HP:0003215 Dicarboxylic aciduria 1
HP:0004482 Relative macrocephaly 1
HP:0005257 Thoracic hypoplasia 1
HP:0005280 Depressed nasal bridge 1
HP:0006644 Thoracic dysplasia 1
HP:0006970 Periventricular leukomalacia 1
HP:0010297 Bifid tongue 1
HP:0010880 Increased nuchal translucency 1
HP:0011002 Osteopetrosis 1
HP:0012081 Enlarged cerebellum 1
HP:0012294 Abnormality of the occipital bone 1
HP:0031013 Ankylosis 1
HP:0100255 Metaphyseal dysplasia 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID