Phenotypes associated with the disease cranioectodermal dysplasia 3 (OMIM:614099, an entry in Online Mendelian Inheritance in Man):
- Scaphocephaly (HP:0030799, a Human Phenotype Ontology term): Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis. Evidence: PCS. Frequency: 1/2. (PMID:21378380)
- Stage 5 chronic kidney disease (HP:0003774, a Human Phenotype Ontology term): A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. Evidence: PCS. Frequency: 1/2. (PMID:21378380)
- Rhizomelia (HP:0008905, a Human Phenotype Ontology term): Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). Evidence: PCS. Frequency: 2/2. (PMID:21378380)
- Brachydactyly (HP:0001156, a Human Phenotype Ontology term): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: PCS. Frequency: 2/2. (PMID:21378380)
- Short stature (HP:0004322, a Human Phenotype Ontology term): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 2/2. (PMID:21378380)
- Sagittal craniosynostosis (HP:0004442, a Human Phenotype Ontology term): A kind of craniosynostosis affecting the sagittal suture. Evidence: PCS. Frequency: 1/2. (PMID:21378380)
- Cirrhosis (HP:0001394, a Human Phenotype Ontology term): A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. Evidence: PCS. Frequency: 1/2. (PMID:21378380)
- Sparse hair (HP:0008070, a Human Phenotype Ontology term): Reduced density of hairs. Evidence: PCS. Frequency: 1/2. (PMID:21378380)
- Dry skin (HP:0000958, a Human Phenotype Ontology term): Skin characterized by the lack of natural or normal moisture. Evidence: TAS. (OMIM:614099)
- Narrow chest (HP:0000774, a Human Phenotype Ontology term): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: PCS. Frequency: 2/2. (PMID:21378380)
- Macrocephaly (HP:0000256, a Human Phenotype Ontology term): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: PCS. Frequency: 1/2. (PMID:21378380)
- Broad nail (HP:0001821, a Human Phenotype Ontology term): Increased width of nail. Evidence: PCS. Frequency: 2/2. (PMID:21378380)
- Cutis laxa (HP:0000973, a Human Phenotype Ontology term): Wrinkled, redundant, inelastic and sagging skin. Evidence: TAS. (OMIM:614099)
- Fine hair (HP:0002213, a Human Phenotype Ontology term): Hair that is fine or thin to the touch. Evidence: TAS. (OMIM:614099)
- Everted lower lip vermilion (HP:0000232, a Human Phenotype Ontology term): An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. Evidence: PCS. Frequency: 1/2. (PMID:21378380)
- 2-4 toe syndactyly (HP:0010714, a Human Phenotype Ontology term): Syndactyly with fusion of toes two to four. Evidence: PCS. Frequency: 1/2. (PMID:21378380)
- Joint hypermobility (HP:0001382, a Human Phenotype Ontology term): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. (PMID:21378380)
- 2-3 toe syndactyly (HP:0004691, a Human Phenotype Ontology term): Syndactyly with fusion of toes two and three. Evidence: PCS. Frequency: 1/2. (PMID:21378380)
- Nephronophthisis (HP:0000090, a Human Phenotype Ontology term): Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. Evidence: PCS. Frequency: 2/2. (PMID:21378380)
- Postaxial polydactyly (HP:0100259, a Human Phenotype Ontology term): A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe. Evidence: PCS. Frequency: 1/2. (PMID:21378380)
- Ectodermal dysplasia (HP:0000968, a Human Phenotype Ontology term): Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. Evidence: IEA. (OMIM:614099)
- Telecanthus (HP:0000506, a Human Phenotype Ontology term): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: PCS. Frequency: 1/2. (PMID:21378380)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:21378380)
- Peripheral pulmonary artery stenosis (HP:0004969, a Human Phenotype Ontology term): Stenosis of a peripheral branch of the pulmonary artery. Evidence: PCS. Frequency: 1/2. (PMID:21378380)
- Dolichocephaly (HP:0000268, a Human Phenotype Ontology term): An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:614099)
- Frontal bossing (HP:0002007, a Human Phenotype Ontology term): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Frequency: 1/2. (PMID:21378380)
- Sandal gap (HP:0001852, a Human Phenotype Ontology term): A widely spaced gap between the first toe (the great toe) and the second toe. Evidence: PCS. Frequency: 1/2. (PMID:21378380)
- Hypoplasia of teeth (HP:0000685, a Human Phenotype Ontology term): Developmental hypoplasia of teeth. Evidence: PCS. Frequency: 1/2. (PMID:21378380)
- Micrognathia (HP:0000347, a Human Phenotype Ontology term): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 1/2. (PMID:21378380)
- Short nail (HP:0001799, a Human Phenotype Ontology term): Decreased length of nail. Evidence: PCS. Frequency: 2/2. (PMID:21378380)
- Widely spaced teeth (HP:0000687, a Human Phenotype Ontology term): Increased spaces (diastemata) between most of the teeth in the same dental arch. Evidence: PCS. Frequency: 2/2. (PMID:21378380)