Total 39 clinical symptoms reported for Thanatophoric dysplasia  Very Frequent (21)Occasional (9)Frequent (9)

Abnormal sacroiliac joint morphology	An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone).   Synonyms:Abnormality of the sacroiliac joint	Very frequent
Abnormality of the metaphysis	An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.   Synonyms:Abnormality of the wide portion of a long bone	Very frequent
Bowing of the long bones	A bending or abnormal curvature of a long bone.   Synonyms:Bowed long bones; Bowing of long bones; Bowing of the long bones; Camptomelia; Diaphyseal bowing; Diaphyseal bowing of long bones	Very frequent
Brachydactyly	Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.   Synonyms:Brachydactyly syndrome; Short fingers or toes	Very frequent
Depressed nasal bridge	Posterior positioning of the nasal root in relation to the overall facial profile for age.   Synonyms:Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge	Very frequent
Femoral bowing	Bowing (abnormal curvature) of the femur.   Synonyms:Bowed femur; Bowed femura; Bowed femurs; Bowed thighbone	Very frequent
Flat face	Absence of concavity or convexity of the face when viewed in profile.   Synonyms:Flat face; Flat facial profile; Flat facial shape; Flat facies	Very frequent
Hypoplastic ilia	Underdevelopment of the ilium.   Synonyms:Short and small iliac bones; Small iliac bones	Very frequent
Hypotonia	Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.   Synonyms:Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia	Very frequent
Intellectual disability, profound	Profound mental retardation is defined as an intelligence quotient (IQ) below 20.   Synonyms:IQ less than 20; Mental retardation, profound; Profound mental retardation	Very frequent
Lethal short-limbed short stature	Synonyms:Lethal micromelic dwarfism; Lethal short-limbed dwarfism	Very frequent
Macrocephaly	Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.   Synonyms:Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocrania; Megacephaly	Very frequent
Micromelia	The presence of abnormally small extremities.   Synonyms:Smaller or shorter than typical limbs	Very frequent
Narrow chest	Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.   Synonyms:Low chest circumference; Narrow chest; Narrow shoulders; Narrow thorax; Reduced anterior-posterior chest diameter	Very frequent
Platyspondyly	A flattened vertebral body shape with reduced distance between the vertebral endplates.   Synonyms:Flat vertebral bodies; Flattened vertebrae; Flattened vertebral bodies	Very frequent
Redundant skin	Loose and sagging skin often associated with loss of skin elasticity.   Synonyms:Loose redundant skin; Redundant skin folds; Sagging, redundant skin	Very frequent
Respiratory insufficiency	Synonyms:Respiratory impairment	Very frequent
Short femur	An abnormal shortening of the femur.   Synonyms:Femoral hypoplasia; Hypoplasia of the femora; Short femurs; Short thighbone	Very frequent
Short greater sciatic notch	The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch.   Synonyms:Short sacroiliac notch; Shortened sacroiliac notches; Small sacroiliac notch	Very frequent
Skeletal dysplasia	A general term describing features characterized by abnormal development of bones and connective tissues.	Very frequent
Split hand	A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.   Synonyms:Claw hand; Claw hand deformities; Claw hands; Claw-hand deformities; Ectrodactyly of the hand; Hand ectrodactyly; Split hand; Split-hand	Very frequent