Phenotypes associated with the disease short-rib thoracic dysplasia 7 with or without polydactyly (OMIM:614091):
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: IEA. (OMIM:614091)
- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: IEA. (OMIM:614091)
- Hypoplastic scapulae (HP:0000882): Underdeveloped scapula. Evidence: TAS. (OMIM:614091)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. (OMIM:614091)
- Short lingual frenulum (HP:0000200): The presence of an abnormally short lingual frenulum. Evidence: IEA. (OMIM:614091)
- Renal hypoplasia (HP:0000089): Hypoplasia of the kidney. Evidence: IEA. (OMIM:614091)
- Brachydactyly (HP:0001156): 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: IEA. (OMIM:614091)
- Short stature (HP:0004322): 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: IEA. (OMIM:614091)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: IEA. (OMIM:614091)
- Hepatic fibrosis (HP:0001395): The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. Evidence: IEA. (OMIM:614091)
- Polydactyly (HP:0010442): A congenital anomaly characterized by the presence of supernumerary fingers or toes. Evidence: PCS. (PMID:21473986)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: IEA. (OMIM:614091)
- Aplasia/Hypoplasia of the eyebrow (HP:0100840): Absence or underdevelopment of the eyebrow. Evidence: IEA. (OMIM:614091)
- Short distal phalanx of finger (HP:0009882): Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. Evidence: IEA. (OMIM:614091)
- Hydrops fetalis (HP:0001789): The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. Evidence: TAS. (OMIM:614091)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: IEA. (OMIM:614091)
- Narrow chest (HP:0000774): 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. (PMID:21473986)
- Short ribs (HP:0000773): Reduced rib length. Evidence: PCS. (PMID:21473986)
- Polycystic kidney dysplasia (HP:0000113): The presence of multiple cysts in both kidneys. Evidence: TAS. (OMIM:614091)
- Cystic hygroma (HP:0000476): A cystic lymphatic lesion of the neck. Evidence: TAS. (OMIM:614091)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: TAS. (OMIM:614091)
- Mesomelia (HP:0003027): Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. Evidence: IEA. (OMIM:614091)
- Fine hair (HP:0002213): Hair that is fine or thin to the touch. Evidence: IEA. (OMIM:614091)
- 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: IEA. (OMIM:614091)
- Ascites (HP:0001541): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: IEA. (OMIM:614091)
- Microdontia (HP:0000691): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: IEA. (OMIM:614091)
- Short uvula (HP:0010812): Decreased length of the uvula. Evidence: IEA. (OMIM:614091)
- Flat acetabular roof (HP:0003180): Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does. Evidence: IEA. (OMIM:614091)
- Postaxial polydactyly (HP:0100259): A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe. Evidence: TAS. (OMIM:614091)
- Renal cyst (HP:0000107): A fluid filled sac in the kidney. Evidence: PCS. (PMID:21473986)
- Autosomal recessive inheritance (HP:0000007): 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:21473986)
- Bowing of the long bones (HP:0006487): A bending or abnormal curvature of a long bone. Evidence: PCS. (PMID:21473986)
- Syndactyly (HP:0001159): Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism". Evidence: PCS. (PMID:21473986)
- Dolichocephaly (HP:0000268): 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: IEA. (OMIM:614091)
- 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: TAS. (OMIM:614091)
- Thoracic dysplasia (HP:0006644). Evidence: TAS. (OMIM:614091)
- Fused teeth (HP:0011090): The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch. Evidence: IEA. (OMIM:614091)
- Agenesis of permanent teeth (HP:0006349): A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth. Evidence: IEA. (OMIM:614091)