Phenotypes associated with the disease Ellis-van Creveld syndrome (OMIM:225500, an entry in Online Mendelian Inheritance in Man):
- Delayed eruption of teeth (HP:0000684, a Human Phenotype Ontology term): Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. Evidence: TAS. (OMIM:225500)
- Nail dysplasia (HP:0002164, a Human Phenotype Ontology term): The presence of developmental dysplasia of the nail. Evidence: TAS. (OMIM:225500)
- Disproportionate short-limb short stature (HP:0008873, a Human Phenotype Ontology term): A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. Evidence: TAS. (OMIM:225500)
- Dandy-Walker malformation (HP:0001305, a Human Phenotype Ontology term): A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. Evidence: TAS. (OMIM:225500)
- Cone-shaped epiphyses of phalanges 2 to 5 (HP:0006035, a Human Phenotype Ontology term). Evidence: TAS. (OMIM:225500)
- Genu valgum (HP:0002857, a Human Phenotype Ontology term): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: TAS. (OMIM:225500)
- Abnormal alveolar ridge morphology (HP:0006477, a Human Phenotype Ontology term): Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth. Evidence: TAS. (OMIM:225500)
- 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: TAS. (OMIM:225500)
- Short ribs (HP:0000773, a Human Phenotype Ontology term): Reduced rib length. Evidence: TAS. (OMIM:225500)
- Epispadias (HP:0000039, a Human Phenotype Ontology term): Epispadias is a urogenital malformation characterized by the failure of the urethral tube to tubularize on the dorsal aspect. Unlike in hypospadias, where the meatus is on the ventral aspect, children with epispadias have a wide-open urethral plate on the dorsum. It is commonly seen as a component in the spectrum of bladder exstrophy-epispadias-complex. Isolated epispadias constitutes less than 10 percent of the total cases of epispadias. Evidence: TAS. (OMIM:225500)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:225500)
- Short long bone (HP:0003026, a Human Phenotype Ontology term): One or more abnormally short long bone. Evidence: TAS. (OMIM:225500)
- Natal tooth (HP:0000695, a Human Phenotype Ontology term): A tooth present at birth or erupting within the first month of life. Evidence: TAS. (OMIM:225500)
- Talipes equinovarus (HP:0001762, a Human Phenotype Ontology term): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: TAS. (OMIM:225500)
- Postaxial hand polydactyly (HP:0001162, a Human Phenotype Ontology term): Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). Evidence: TAS. (OMIM:225500)
- Capitate-hamate fusion (HP:0001241, a Human Phenotype Ontology term). Evidence: TAS. (OMIM:225500)
- Common atrium (HP:0011565, a Human Phenotype Ontology term): Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections. Evidence: TAS. (OMIM:225500)
- Acetabular spurs (HP:0010454, a Human Phenotype Ontology term): The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum. Evidence: TAS. (OMIM:225500)
- 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: TAS. (OMIM:225500)
- Hypodontia (HP:0000668, a Human Phenotype Ontology term): The absence of five or less teeth from the normal series by a failure to develop. Evidence: TAS. (OMIM:225500)
- Horizontal ribs (HP:0000888, a Human Phenotype Ontology term): A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12. Evidence: TAS. (ISBN:3642035590)
- 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: TAS. (OMIM:225500)
- Pectus carinatum (HP:0000768, a Human Phenotype Ontology term): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: TAS. (OMIM:225500)
- Neonatal short-limb short stature (HP:0008921, a Human Phenotype Ontology term): A type of short-limbed dwarfism that is manifest beginning in the neonatal period. Evidence: TAS. (OMIM:225500)
- Postaxial foot polydactyly (HP:0001830, a Human Phenotype Ontology term): Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit. Evidence: TAS. (OMIM:225500)
- Hypospadias (HP:0000047, a Human Phenotype Ontology term): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: TAS. (OMIM:225500)
- Atrial septal defect (HP:0001631, a Human Phenotype Ontology term): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: TAS. (OMIM:225500)
- Hypoplastic iliac wing (HP:0002866, a Human Phenotype Ontology term): Underdevelopment of the ilium ala. Evidence: TAS. (OMIM:225500)
- Cryptorchidism (HP:0000028, a Human Phenotype Ontology term): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. (OMIM:225500)
- Cleft upper lip (HP:0000204, a Human Phenotype Ontology term): A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. Evidence: TAS. (OMIM:225500)