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) |
| Abnormality of fontanelles | Very frequent (present in 80%-99% of cases) |
| Cryptorchidism | Very frequent (present in 80%-99% of cases) |
| Dysphasia | Very frequent (present in 80%-99% of cases) |
| Flat face | Very frequent (present in 80%-99% of cases) |
| Gastroesophageal reflux | Very frequent (present in 80%-99% of cases) |
| Hypertelorism | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Male pseudohermaphroditism | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Profound global |
Very frequent (present in 80%-99% of cases) |
| Abnormal hemoglobin | Frequent (present in 30%-79% of cases) |
| Anteverted nares | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Depressed nasal ridge | Frequent (present in 30%-79% of cases) |
| Epicanthus | Frequent (present in 30%-79% of cases) |
| Everted lower lip vermilion | Frequent (present in 30%-79% of cases) |
| Hypoplasia of penis | Frequent (present in 30%-79% of cases) |
| Midface retrusion | Frequent (present in 30%-79% of cases) |
| Muscular |
Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Talipes equinovarus | Frequent (present in 30%-79% of cases) |
| Telecanthus | Frequent (present in 30%-79% of cases) |
| Tented upper lip vermilion | Frequent (present in 30%-79% of cases) |
| Thick lower lip vermilion | Frequent (present in 30%-79% of cases) |
| U-Shaped upper lip vermilion | Frequent (present in 30%-79% of cases) |
| Abnormality of movement | Occasional (present in 5%-29% of cases) |
| Abnormality of the dentition | Occasional (present in 5%-29% of cases) |
| Aganglionic megacolon | Occasional (present in 5%-29% of cases) |
| Agenesis of |
Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Blindness | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Cerebral cortical atrophy | Occasional (present in 5%-29% of cases) |
| Clinodactyly of the 5th finger | Occasional (present in 5%-29% of cases) |
| Constipation | Occasional (present in 5%-29% of cases) |
| Death in infancy | Occasional (present in 5%-29% of cases) |
| Depression | Occasional (present in 5%-29% of cases) |
| Encephalitis | Occasional (present in 5%-29% of cases) |
| Feeding difficulties in infancy | Occasional (present in 5%-29% of cases) |
| Flexion |
Occasional (present in 5%-29% of cases) |
| Hydronephrosis | Occasional (present in 5%-29% of cases) |
| Joint stiffness | Occasional (present in 5%-29% of cases) |
| Myopia | Occasional (present in 5%-29% of cases) |
| Nausea and vomiting | Occasional (present in 5%-29% of cases) |
| Optic atrophy | Occasional (present in 5%-29% of cases) |
| Recurrent urinary tract infections | Occasional (present in 5%-29% of cases) |
| Self-injurious behavior | Occasional (present in 5%-29% of cases) |
| Sensorineural hearing impairment | Occasional (present in 5%-29% of cases) |
| Spastic paraplegia | Occasional (present in 5%-29% of cases) |
| Volvulus | Occasional (present in 5%-29% of cases) |
| Abnormality of metabolism/homeostasis | - |
| Absent frontal sinuses | - |
| Cerebral atrophy | - |
| Clinodactyly | - |
| Coxa valga | - |
| Hemivertebrae | - |
| Hypochromic microcytic anemia | - |
| Hypospadias | - |
| Infantile muscular hypotonia | - |
| Kyphoscoliosis | - |
| Low-set ears | - |
| Malar flattening | - |
| Micropenis | - |
| Microtia | - |
| Perimembranous ventricular septal defect | - |
| Phenotypic variability | - |
| Posteriorly rotated ears | - |
| Postnatal growth retardation | - |
| Protruding tongue | - |
| Radial deviation of finger | - |
| Reduced alpha/beta synthesis ratio | - |
| Renal agenesis | - |
| Shawl scrotum | - |
| Short nose | - |
| - | |
| Tapered finger | - |
| Umbilical hernia | - |
| Widely-spaced maxillary central incisors | - |
| - |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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 son was diagnosed with alpha-thalassemia x-linked intellectual disability syndrome. The questions I have relate to other members of the family. I have a sister who has children. I understand that if my sister has the mutation, there is a chance that she passed it to her daughter, who would then be a carrier. But the literature I have read isn't completely clear regarding boys. If my sister carries the mutation, could she have passed it to her son and could her son be an unaffected carrier of the mutation? See answer
