Clinical Signs and Symptoms
ORPHA:93299 Achondrogenesis type 1A
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abdominal distention HP:0003270
- Abnormal enchondral ossification HP:0003336
- Anteverted nares HP:0000463
- Aplasia/Hypoplasia of the lungs HP:0006703
- Flat face HP:0012368
- Frontal bossing HP:0002007
- Hydrops fetalis HP:0001789
- Lethal skeletal dysplasia HP:0005716
- Long philtrum HP:0000343
- Macrocephaly HP:0000256
- Micrognathia HP:0000347
- Micromelia HP:0002983
- Narrow chest HP:0000774
- Severe short stature HP:0003510
- Short neck HP:0000470
- Short nose HP:0003196
- Short thorax HP:0010306
- Thickened nuchal skin fold HP:0000474
Very frequent
- Femoral hernia HP:0100541
- Multiple rib fractures HP:0006640
- Polyhydramnios HP:0001561
- Recurrent fractures HP:0002757
- Short foot HP:0001773
- Short palm HP:0004279
- Umbilical hernia HP:0001537
Frequent
- Cystic hygroma HP:0000476
- Malformation of the heart and great vessels HP:0002564
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.