The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Alopecia | 90% |
| Exocrine pancreatic insufficiency | 90% |
| Intrauterine growth retardation | 90% |
| Malabsorption | 90% |
| Short nose | 90% |
| Short stature | 90% |
| Underdeveloped nasal alae | 90% |
| Abnormality of female internal genitalia | 50% |
| Anemia | 50% |
| Cognitive impairment | 50% |
| Delayed eruption of teeth | 50% |
| Delayed skeletal maturation | 50% |
| Hypoproteinemia | 50% |
| Lacrimation abnormality | 50% |
| Microdontia | 50% |
| Reduced number of teeth | 50% |
| Sensorineural hearing impairment | 50% |
| Urogenital fistula | 50% |
| Abnormality of the cardiac septa | 7.5% |
| Abnormality of the nares | 7.5% |
| Abnormality of the upper urinary tract | 7.5% |
| Diabetes mellitus | 7.5% |
| Displacement of the external urethral meatus | 7.5% |
| Hypoplasia of penis | 7.5% |
| Microcephaly | 7.5% |
| Muscular hypotonia | 7.5% |
| Situs inversus totalis | 7.5% |
| Cholestasis | 5% |
| Dilated cardiomyopathy | 5% |
| Hepatic failure | 5% |
| Abnormality of the nail | - |
| Absent lacrimal punctum | - |
| Agenesis of permanent teeth | - |
| Anal atresia | - |
| Anasarca | - |
| Anteriorly placed anus | - |
| Aplasia cutis congenita of scalp | - |
| Atria septal defect | - |
| Autosomal recessive inheritance | - |
| Cafe-au-lait spot | - |
| Clinodactyly of the 5th finger | - |
| Colonic diverticula | - |
| Convex nasal ridge | - |
| Cryptorchidism | - |
| Death in childhood | - |
| Failure to thrive | - |
| Fair hair | - |
| Frontal upsweep of hair | - |
| Hydronephrosis | - |
| Hypocalcemia | - |
| Hypoplasia of the primary teeth | - |
| Hypoplastic nipples | - |
| Hypospadias | - |
| Hypothyroidism | - |
| Increased circulating very-low-density lipoprotein cholesterol | - |
| Intellectual disability | - |
| Joint laxity | - |
| Micropenis | - |
| Midline skin dimples over anterior/posterior fontanelles | - |
| obsolete Clitoromegaly | - |
| Rectovaginal fistula | - |
| Septate vagina | - |
| Single transverse palmar crease | - |
| Skull defect | - |
| Small for gestational age | - |
| Sparse scalp hair | - |
| Strabismus | - |
| Urethrovaginal fistula | - |
| Ventricular septal defect | - |
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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My younger son has Johanson Blizzard syndrome. He has arrested growth, hearing loss, some teeth disappearance and pancreatic insufficiency. He was also diagnosed with pure red cell aplasia. How can we help pancreatic insufficiency, which helps with growth? Is there any help for hearing impairment? See answer
