Total 34 clinical symptoms reported for Hypoparathyroidism-retardation-dysmorphism syndrome
| Abnormal pinna morphology |
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Synonyms:Abnormal form of ears; Abnormally shaped ears; Auricular malformation; Deformed auricles; Deformed ears; Dysplastic ears; Malformation of auricle; Malformed auricles; Malformed ears; Malformed external ears; Minor malformation of the auricles; Poorly defined conchae |
Very frequent |
| Congenital hypoparathyroidism |
Deficiency of parathyroid hormone with congenital onset.
Synonyms:Neonatal hypoparathyroidism |
Very frequent |
| Convex nasal ridge |
Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
Synonyms:Beaked nose; Beaklike protrusion; Convex dorsum of nose; Convex nasal dorsum; Hooked nose; Polly beak nasal deformity |
Very frequent |
| Deeply set eye |
An eye that is more deeply recessed into the plane of the face than is typical.
Synonyms:Deep set eye; Deep-set eyes; Deeply set eye; Enophthalmos; Ocular depression; Sunken eye; Sunken eyes |
Very frequent |
| Delayed skeletal maturation |
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Synonyms:Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation |
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 |
| High forehead |
An abnormally increased height of the forehead.
Synonyms:High forehead |
Very frequent |
| Hypoparathyroidism |
A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia.
Synonyms:Decreased parathyroid hormone secretion; Low parathyroid hormone |
Very frequent |
| Intellectual disability |
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Synonyms:Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation |
Very frequent |
| Long philtrum |
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Synonyms:Elongated philtrum; Increased height of philtrum; Increased length of philtrum; Increased vertical dimension of philtrum; Vertical hyperplasia of philtrum |
Very frequent |
| Microcephaly |
Head circumference below 2 standard deviations below the mean for age and sex.
Synonyms:Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference |
Very frequent |
| Micrognathia |
Developmental hypoplasia of the mandible.
Synonyms:Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible |
Very frequent |
| Posteriorly rotated ears |
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Synonyms:Ear, posterior angulation, increased; Ears rotated toward back of head; Posteriorly angulated ears; Posteriorly rotated; Posteriorly rotated auricles; Posteriorly-angulated ears; Posteriorly-rotated ears |
Very frequent |
| Postnatal growth retardation |
Slow or limited growth after birth.
Synonyms:Growth delay as children; Growth retardation as children; Postnatal growth deceleration; Postnatal growth deficiency; Postnatal growth failure |
Very frequent |
| Seizure |
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Synonyms:Epileptic seizure; Seizures |
Very frequent |
| Severe intrauterine growth retardation |
Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age.
Synonyms:Intrauterine growth retardation, severe; Severe prenatal growth deficiency |
Very frequent |
| Short foot |
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Synonyms:Hypoplastic feet; Short feet; Short foot; Small feet |
Very frequent |
| Short stature |
A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to 'short stature' as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).
Synonyms:Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile |
Very frequent |
| Small hand |
Disproportionately small hand.
Synonyms:Disproportionately small hands; Small hand |
Very frequent |
| Thin vermilion border |
Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).
Synonyms:Decreased volume of lip; Decreased volume of lip vermillion; Thin lips; Thin vermillion |
Very frequent |