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Prevalence (%) of clinical parameters based on data from 1 references describing 15 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Nasal hypoplasia | skeletal | 100 % | 23470839 | 2014-04-23 | |
| Midfacial hypoplasia | skeletal | 100 % | 23470839 | 2014-04-23 | |
| Brachytelephalangy | skeletal | 100 % | 23470839 | 2014-04-23 | |
| Chondrodysplasia punctata | skeletal | 92 % | 23470839 | 2014-04-23 | |
| Failure to thrive | multi | 73 % | 23470839 | 2014-04-23 | |
| Short stature | skeletal | 67 % | 23470839 | 2014-04-23 | |
| Alar grooves | skeletal | 57 % | 23470839 | 2014-04-23 | |
| Developmental delay | nervous | 56 % | 23470839 | 2014-04-23 | |
| Conductive hearing loss | skeletal | 56 % | 23470839 | 2014-04-23 | |
| Short limbs | skeletal | 43 % | 23470839 | 2014-04-23 | |
| Cervical spine abnormality | skeletal | 40 % | 23470839 | 2014-04-23 | |
| Reflux | digestive | 23 % | 23470839 | 2014-04-23 | |
| Ichthyosis | integumentary | 7 % | 23470839 | 2014-04-23 |
List of references:
A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.
Claudia Matos-Miranda, Graeme Nimmo, Bradley Williams, Carolyn Tysoe, Martina Owens, Sherri Bale, Nancy Braverman,
Genetics in medicine : official journal of the American College of Medical Genetics - Aug 2013