Total 33 clinical symptoms reported for Johanson-Blizzard syndrome
Abnormal hair pattern |
An abnormality of the distribution of hair growth.
Synonyms:Abnormal distribution of hair; Abnormal hair pattern |
Very frequent |
Abnormality of the dentition |
Any abnormality of the teeth.
Synonyms:Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies |
Very frequent |
Abnormality of the pancreas |
An abnormality of the pancreas.
Synonyms:Abnormality of the pancreas |
Very frequent |
Alopecia |
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Synonyms:Hair loss |
Very frequent |
Exocrine pancreatic insufficiency |
Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
Synonyms:Inability to properly digest food due to lack of pancreatic digestive enzymes |
Very frequent |
Failure to thrive |
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Synonyms:Faltering weight; Postnatal failure to thrive; Weight faltering |
Very frequent |
Intrauterine growth retardation |
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Synonyms:In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant |
Very frequent |
Malabsorption |
Impaired ability to absorb one or more nutrients from the intestine.
Synonyms:Intestinal malabsorption; Malabsorption |
Very frequent |
Short nose |
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Synonyms:Decreased length of nose; Hypoplastic nose; Nasal hypoplasia; Short nose; Shortened nose |
Very frequent |
Short stature |
A height below that which is expected according to age and gender 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 gender (or below the 3rd percentile for age and gender dependent norms).
Synonyms:Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile |
Very frequent |
Underdeveloped nasal alae |
Thinned, deficient, or excessively arched ala nasi.
Synonyms:Ala nasi, underdeveloped; Alar cartilage hypoplasia; Decreased size of nasal alae; Hypoplastic alae nasae; Hypoplastic alae nasi; Hypoplastic alar cartilage; Hypoplastic alar nasae; Hypoplastic nares; Hypoplastic nasal alae; Hypoplastic nasal wings; Hypoplastic nostrils; Nasal cartilage hypoplasia; Small nasal alae; Thin hypoplastic alae nasi; Underdeveloped tissue around nostril |
Very frequent |