Phenotypes associated with the disease autosomal dominant omodysplasia (OMIM:164745):
- Labial hypoplasia (HP:0000066). Evidence: PCS. Frequency: 1/2. (PMID:25759469)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/2. (PMID:25759469)
- Fibular hypoplasia (HP:0003038): Underdevelopment of the fibula. Evidence: PCS. Frequency: 1/2. (PMID:25759469)
- Tented upper lip vermilion (HP:0010804): Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base. Evidence: PCS. Frequency: 1/2. (PMID:25759469)
- Broad femoral neck (HP:0006429): An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: PCS. Frequency: 1/2. (PMID:25759469)
- Dyspareunia (HP:0030016): Recurrent or persistent genital pain associated with sexual intercourse. Evidence: PCS. Frequency: 1/2. (PMID:25759469)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: PCS. Frequency: 1/2. (PMID:25759469)
- Glabellar hemangioma (HP:0001076). Evidence: PCS. Frequency: 1/2. (PMID:25759469)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: PCS. Frequency: 1/2. (PMID:25759469)
- Short humerus (HP:0005792): Underdevelopment of the humerus. Evidence: PCS. Frequency: 2/2. (PMID:25759469)
- Clitoral hypoplasia (HP:0000060): Developmental hypoplasia of the clitoris. Evidence: PCS. Frequency: 1/2. (PMID:25759469)
- Short 1st metacarpal (HP:0010034): A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand. Evidence: IEA. (OMIM:164745)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 2/2. (PMID:25759469)
- Limited elbow flexion (HP:0006376). Evidence: TAS. (OMIM:164745)
- Posteriorly rotated ears (HP:0000358): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: PCS. Frequency: 1/2. (PMID:25759469)
- Bifid nasal tip (HP:0000456): A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip. Evidence: IEA. (OMIM:164745)
- Overfolded helix (HP:0000396): A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear. Evidence: PCS. Frequency: 1/2. (PMID:25759469)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: PCS. Frequency: 1/2. (PMID:25759469)
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: IEA. (OMIM:164745)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/2. (PMID:25759469)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 1/2. (PMID:25759469)
- Uterus didelphys (HP:0003762): A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis. Evidence: PCS. Frequency: 1/2. (PMID:25759469)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 1/2. (PMID:25759469)
- Hypoplastic distal humeri (HP:0005025): Underdevelopment of the distal portion of the humerus. Evidence: IEA. (OMIM:164745)
- Anterior wedging of T11 (HP:0004573): An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front). Evidence: PCS. Frequency: 1/2. (PMID:25759469)
- Rhizomelic arm shortening (HP:0004991): Disproportionate shortening of the proximal segment of the arm (i.e. the humerus). Evidence: PCS. Frequency: 2/2. (PMID:25759469)
- Dislocated radial head (HP:0003083): A dislocation of the head of the radius from its socket in the elbow joint. Evidence: PCS. Frequency: 1/2. (PMID:25759469)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 2/2. (PMID:25759469)
- Limited elbow flexion/extension (HP:0005060). Evidence: TAS. (OMIM:164745)
- Bilateral cleft lip (HP:0100336): A non-midline cleft of the upper lip on the left and right sides. Evidence: PCS. Frequency: 1/2. (PMID:25759469)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 1/2. (PMID:25759469)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: PCS. Frequency: 1/2. (PMID:25759469)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: IEA. (OMIM:164745)
- Hypospadias (HP:0000047): 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: IEA. (OMIM:164745)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:25759469)
- Cryptorchidism (HP:0000028): 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: IEA. (OMIM:164745)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 1/2. (PMID:25759469)