THANATOPHORIC DYSPLASIA, TYPE II

General Information (adopted from Orphanet):

Synonyms, Signs: THANATOPHORIC DYSPLASIA WITH STRAIGHT FEMURS AND CLOVERLEAF SKULL
THANATOPHORIC DYSPLASIA WITH KLEEBLATTSCHAEDEL
CLOVERLEAF SKULL WITH THANATOPHORIC DWARFISM
TD2
Number of Symptoms 25
OrphanetNr:
OMIM Id: 187601
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002676) Cloverleaf skull 14 / 7739
2
(HPO:0002677) Small foramen magnum 4 / 7739
3
(HPO:0000274) Small face 18 / 7739
4
(HPO:0000926) Platyspondyly 150 / 7739
5
(HPO:0001156) Brachydactyly syndrome 180 / 7739
6
(HPO:0003185) Short sacroiliac notch 7 / 7739
7
(HPO:0000774) Narrow chest 167 / 7739
8
(HPO:0000773) Short ribs 70 / 7739
9
(HPO:0003025) Metaphyseal irregularity 42 / 7739
10
(HPO:0000946) Hypoplastic ilia 21 / 7739
11
(HPO:0003015) Flared metaphysis 44 / 7739
12
(HPO:0000910) Wide-cupped costochondral junctions 3 / 7739
13
(HPO:0006584) Small abnormally formed scapulae 4 / 7739
14
(HPO:0001558) Decreased fetal movement 74 / 7739
15
(HPO:0001561) Polyhydramnios 191 / 7739
16
(HPO:0008909) Lethal short-limbed short stature 4 / 7739
17
(HPO:0004763) Paroxysmal supraventricular tachycardia 10 / 7739
18
(HPO:0002093) Respiratory insufficiency 410 / 7739
19
(OMIM) Clover leaf head 1 / 7739
20
(OMIM) Prenatal diagnosis by ultrasound 5 / 7739
21
(HPO:0003811) Neonatal death 44 / 7739
22
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
23
(OMIM) Severe cloverleaf skull (Kleeblattschaedel) 1 / 7739
24
(MedDRA:10072883) Brachydactyly 153 / 7739
25
(OMIM) Straight femurs 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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 ...
Clinical Description OMIM Partington et al. (1971) described cloverleaf skull in association with generalized skeletal dysplasia consistent with thanatophoric dwarfism. Two of their 4 cases were in sibs. Horton et al. (1983) reported monozygotic twins with thanatophoric dysplasia who were discordant ...
Molecular genetics OMIM In 16 individuals with type II thanatophoric dysplasia, Tavormina et al. (1995) identified a heterozygous 1948A-G mutation in the FGFR3 gene, causing a lys650-to-glu (K650E; 134934.0004) substitution in the tyrosine kinase domain.

In a review of ...