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Thanatophoric dysplasia type 1
1 OMIM reference -
1 associated gene
41 connected diseases
42 signs/symptoms
Disease Type of connection
Achondroplasia
Camptodactyly - tall stature - scoliosis - hearing loss
Crouzon syndrome - acanthosis nigricans
Cutis gyrata - acanthosis nigricans - craniosynostosis
Giant cell glioblastoma
Gliosarcoma
Hypochondroplasia
Isolated brachycephaly
Isolated cloverleaf skull syndrome
Isolated plagiocephaly
Lacrimo-auriculo-dento-digital syndrome
Muenke syndrome
Saethre-Chotzen syndrome
Severe achondroplasia - developmental delay - acanthosis nigricans
Thanatophoric dysplasia type 2
Kallmann syndrome
Normosmic congenital hypogonadotropic hypogonadism
Multiple synostoses syndrome
Distal 16p11.2 microdeletion syndrome
Proximal 16p11.2 microdeletion syndrome
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Autosomal dominant hyper-IgE syndrome
Chronic mucocutaneous candidiasis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Isolated NADH-CoQ reductase deficiency
Monomelic amyotrophy
Pycnodysostosis
Autosomal dominant hypophosphatemic rickets
Deafness with labyrinthine aplasia, microtia, and microdontia
Hypercalcemic tumoral calcinosis
Oculootodental syndrome
Otodental syndrome
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Synonym(s):
- TD1
- Thanatophoric dwarfism type 1
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
FGFR3 P22607134934
Very frequent
- Autosomal dominant inheritance
- Bowed diaphysis / diaphyses / long bones
- Depressed nasal bridge
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Flat face
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Loose skin / skin relaxation / excess skin / creases
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Metaphyseal anomaly
- Narrow rib cage / thorax
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Platyspondyly
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Rhizomelic micromelia
- Sacroiliac joints anomalies
- Short hand / brachydactyly
- Short limbs / micromelia / brachymelia
- Short rib cage / thorax
- Short stature / dwarfism / nanism
- Small face
- Stillbirth / neonatal death
- Trident hand / split hand / abnormal median ray

Frequent
- Dilated cerebral ventricles without hydrocephaly
- Frontal bossing / prominent forehead
- Hearing loss / hypoacusia / deafness
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Increased nuchal translucency
- Kyphosis
- Polyhydramnios
- Proptosis / exophthalmos
- Rippled skin

Occasional
- Acanthosis nigricans
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Atrial septal defect / interauricular communication
- Cloverleaf skull
- Hydrocephaly
- Patent ductus arteriosus
- Renal / kidney anomalies
- Restricted joint mobility / joint stiffness / ankylosis
- Seizures / epilepsy / absences / spasms / status epilepticus