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 pelvic girdle bone morphology | 90% |
| Abnormality of the ribs | 90% |
| Micromelia | 90% |
| Short thorax | 90% |
| Skeletal dysplasia | 90% |
| Abnormality of the clavicle | 50% |
| Abnormality of the metaphyses | 50% |
| Abnormality of the sternum | 50% |
| Short toe | 50% |
| Cholestasis | 30% |
| Hepatomegaly | 30% |
| Abnormality of retinal pigmentation | 7.5% |
| Abnormality of the liver | 7.5% |
| Aplasia/Hypoplasia of the lungs | 7.5% |
| Death in infancy | 7.5% |
| Feeding difficulties in infancy | 7.5% |
| Nephropathy | 7.5% |
| Postaxial foot polydactyly | 7.5% |
| Postaxial hand polydactyly | 7.5% |
| Renal insufficiency | 7.5% |
| Toe syndactyly | 7.5% |
| Agenesis of corpus callosum | 5% |
| Anal atresia | 5% |
| Atria septal defect | 5% |
| Bifid tongue | 5% |
| Brachycephaly | 5% |
| Cerebellar cyst | 5% |
| Cerebellar vermis hypoplasia | 5% |
| Cleft upper lip | 5% |
| Cognitive impairment | 5% |
| Craniosynostosis | 5% |
| Cryptorchidism | 5% |
| Delayed speech and language development | 5% |
| Dilation of lateral ventricles | 5% |
| Fibular hypoplasia | 5% |
| Genu valgum | 5% |
| Glucose intolerance | 5% |
| Hydrocephalus | 5% |
| Hypoplasia of the ulna | 5% |
| Intestinal malrotation | 5% |
| Microcephaly | 5% |
| Microglossia | 5% |
| Micropenis | 5% |
| Nephrocalcinosis | 5% |
| Nyctalopia | 5% |
| Obesity | 5% |
| Oculomotor apraxia | 5% |
| Oral cleft | 5% |
| Pachygyria | 5% |
| Polyhydramnios | 5% |
| Postaxial polydactyly | 5% |
| Preaxial polydactyly | 5% |
| Rod-cone dystrophy | 5% |
| Talipes equinovarus | 5% |
| Ventricular septal defect | 5% |
| Absent tibia | - |
| Acetabular spurs | - |
| Anemia | - |
| Ataxia | - |
| Autosomal recessive inheritance | - |
| Bell-shaped thorax | - |
| Bile duct proliferation | - |
| Bowing of the long bones | - |
| Brachydactyly syndrome | - |
| Broad palm | - |
| Cataract | - |
| Chronic kidney disease | - |
| Chronic tubulointerstitial nephritis | - |
| Cone-shaped epiphyses of the phalanges of the hand | - |
| Cone-shaped epiphysis | - |
| Conjugated hyperbilirubinemia | - |
| Cystic hygroma | - |
| Depressed nasal bridge | - |
| Digenic inheritance | - |
| Disproportionate shortening of the tibia | - |
| Early ossification of capital femoral epiphyses | - |
| Elevated serum creatinine | - |
| Enlarged kidneys | - |
| Failure to thrive | - |
| Femoral bowing | - |
| Foot polydactyly | - |
| Full cheeks | - |
| Hamartoma of tongue | - |
| Hand polydactyly | - |
| Hepatic failure | - |
| Hepatic fibrosis | - |
| Horizontal ribs | - |
| Hydrops fetalis | - |
| Hypoplasia of the capital femoral epiphysis | - |
| Hypoplasia of the epiglottis | - |
| Hypoplastic iliac wing | - |
| Hypoplastic pelvis | - |
| Hypoplastic scapulae | - |
| Hypospadias | - |
| Infantile onset | - |
| Inguinal hernia | - |
| Intellectual disability | - |
| Irregular epiphyses | - |
| Jaundice | - |
| Lateral clavicle hook | - |
| Macrocephaly | - |
| Median cleft lip | - |
| Mesomelia | - |
| Metaphyseal irregularity | - |
| Metaphyseal spurs | - |
| Metaphyseal widening | - |
| Myopia | - |
| Narrow chest | - |
| Nephronophthisis | - |
| Nystagmus | - |
| Pancreatic cysts | - |
| Pancreatic fibrosis | - |
| Polycystic kidney dysplasia | - |
| Polycystic liver disease | - |
| Polydactyly | - |
| Polysyndactyly of hallux | - |
| Postaxial polysyndactyly of foot | - |
| Preaxial hand polydactyly | - |
| Proteinuria | - |
| Pulmonary hypoplasia | - |
| Pulmonary insufficiency | - |
| Recurrent respiratory infections | - |
| Renal cyst | - |
| Renal dysplasia | - |
| Renal hypoplasia | - |
| Respiratory insufficiency | - |
| Retinal degeneration | - |
| Rhizomelia | - |
| Scoliosis | - |
| Short femoral neck | - |
| Short foot | - |
| Short iliac bones | - |
| Short long bone | - |
| Short metacarpal | - |
| Short phalanx of finger | - |
| Short ribs | - |
| Short stature | - |
| Splenomegaly | - |
| Stage 5 chronic kidney disease | - |
| Syndactyly | - |
| Thoracic dysplasia | - |
| Thoracic hypoplasia | - |
| Variable expressivity | - |
| Visual loss | - |
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
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.
2011 Cilia, Mucus & Mucociliary Interactions Gordon Research Conference
Sunday, February 13, 2011 -
Friday, February 18, 2011
Location:
Ventura,
CA
Description: By tradition, the work presented at a Gordon Research Conference (GRC) is expected to be at the frontiers of science and unpublished to ensure presentation of the most recent and novel data. This format allows presentation of the most recent “hottest” findings. No publication is permitted from these proceedings as per GRC guidelines.
Contact:
Co-funding Institute(s): National Heart, Lung, and Blood Institute, Office of Rare Diseases Research
Nutritional Challenges in the High-Risk Infant Monday, September 14, 2009 -
Tuesday, September 15, 2009
Location: DC Metro Area,
Description: Evidence was critically evaluated at this workshop. Current gaps in knowledge in this area were identified and research priorities were formulated. The workshop summary will provide NICHD and the scientific community a template to address the scientific and clinical issues related to nutrition and neonatal care.
Contact: Dr. Rosemary D. Higgins, NICHD 301-435-7909
Co-funding Institute(s): National Institute of Child Health and Human Development
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