Phenotypes associated with the disease phocomelia, Schinzel type (OMIM:276820):
- 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: TAS. (OMIM:276820)
- Aplasia/hypoplasia of the extremities (HP:0009815): Absence (due to failure to form) or underdevelopment of the extremities. Evidence: PCS. Frequency: Obligate (HP:0040280). (PMID:16826533)
- Small scrotum (HP:0000046): Apparently small scrotum for age. Evidence: PCS. Frequency: 1/3. (PMID:3066902)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:16826533)
- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: PCS. Frequency: Very frequent (HP:0040281). (PMID:16826533)
- Pilonidal sinus (HP:0010769): A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris. Evidence: TAS. (OMIM:276820)
- Split hand (HP:0001171): A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands. Evidence: PCS. Frequency: Frequent (HP:0040282). (OMIM:276820)
- Elbow ankylosis (HP:0003070). Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:16826533)
- Finger aplasia (HP:0009380): A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers). Evidence: PCS. Frequency: Very frequent (HP:0040281). (PMID:16826533)
- Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173). Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:16826533)
- Foot oligodactyly (HP:0001849): A developmental defect resulting in the presence of fewer than the normal number of toes. Evidence: PCS. Frequency: Very frequent (HP:0040281). (PMID:16826533)
- Broad clavicle (HP:0000916): Increased width (cross-sectional diameter) of the clavicles. Evidence: PCS. Frequency: 3/5. (PMID:3066902)
- Hemivertebrae (HP:0002937): Absence of one half of the vertebral body. Evidence: TAS. (OMIM:276820)
- Aplasia/Hypoplasia of the pubic bone (HP:0009104): Absence or underdevelopment of the pubic bone. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:16826533)
- Aplasia/Hypoplasia of metatarsal bones (HP:0001964): Absence or underdevelopment of the metatarsal bones. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:16826533)
- Fibular aplasia (HP:0002990): Absence of the fibula. Evidence: PCS. Frequency: Very frequent (HP:0040281). (PMID:16826533)
- Humeroradial synostosis (HP:0003041): An abnormal osseous union (fusion) between the radius and the humerus. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:16826533)
- Aplasia/Hypoplasia of the tarsal bones (HP:0008363): Absence or underdevelopment of the tarsal bones. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:16826533)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:16826533)
- 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: IEA. (OMIM:276820)
- Congenital pseudoarthrosis of the clavicle (HP:0006585): The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle. Evidence: TAS. (OMIM:276820)
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: TAS. (OMIM:276820)
- Prominent sternum (HP:0000884). Evidence: PCS. Frequency: 2/3. (PMID:3066902)
- Radial bowing (HP:0002986): A bending or abnormal curvature of the radius. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:16826533)
- Elbow flexion contracture (HP:0002987): An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:16826533)
- 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:276820)
- Hypoplasia of the radius (HP:0002984): Underdevelopment of the radius. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:16826533)
- Aplasia/Hypoplasia involving the carpal bones (HP:0006502): Absence or underdevelopment of the carpal bones. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:16826533)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. (OMIM:276820)
- Broad ribs (HP:0000885): Increased width of ribs. Evidence: PCS. Frequency: 3/5. (PMID:3066902)
- Aplasia/hypoplasia of the femur (HP:0005613): Absence or underdevelopment of the femur. Evidence: PCS. Frequency: Very frequent (HP:0040281). (PMID:16826533)
- Narrow palate (HP:0000189): Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). Evidence: TAS. (OMIM:276820)
- Barrel-shaped chest (HP:0001552): A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis. Evidence: PCS. Frequency: 2/3. (PMID:3066902)
- Disproportionate short stature (HP:0003498): A kind of short stature in which different regions of the body are shortened to differing extents. Evidence: PCS. Frequency: Frequent (HP:0040282). (OMIM:276820)
- Decreased calvarial ossification (HP:0005474): Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone). Evidence: TAS. (OMIM:276820)
- Anteriorly displaced genitalia (HP:0003252). Evidence: PCS. Frequency: 4/5. (PMID:3066902)
- 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: TAS. (OMIM:276820)
- Occipital meningocele (HP:0002436): A herniation of meninges through a congenital bone defect in the skull in the occipital region. Evidence: PCS. Frequency: Occasional (HP:0040283). (OMIM:276820)
- Hypoplastic nipples (HP:0002557): Underdevelopment of the nipple. Evidence: TAS. (OMIM:276820)
- Aplasia/Hypoplasia of the phalanges of the hand (HP:0009767): Small or missing phalangeal bones of the fingers of the hand. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:16826533)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: TAS. (OMIM:276820)
- Broad neck (HP:0000475): Increased side-to-side width of the neck. Evidence: PCS. Frequency: 3/5. (PMID:3066902)
- Phocomelia (HP:0009829): Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the entire limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:16826533)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: TAS. (OMIM:276820)
- Aplastic pubic bone (HP:0008817): A developmental defect characterized by lack of development of the pubis bone. Evidence: TAS. (OMIM:276820)
- Long face (HP:0000276): Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). Evidence: PCS. Frequency: 2/3. (PMID:3066902)
- Aplasia of the ulna (HP:0003982): Missing ulna bone associated with congenital failure of development. Evidence: PCS. Frequency: Very frequent (HP:0040281). (PMID:16826533)
- Carpal bone aplasia (HP:0004231): Congenital absence of a carpal bone. Evidence: TAS. (OMIM:276820)
- Aplasia of the uterus (HP:0000151): A congenital defect characterized by absence of the uterus. Aplasia refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue. Evidence: PCS. Frequency: Occasional (HP:0040283). (OMIM:276820)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. (OMIM:276820)
- Long ear (HP:0400004): Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. Evidence: TAS. (OMIM:276820)
- Aplasia/Hypoplasia involving the metacarpal bones (HP:0005914): Aplasia or Hypoplasia affecting the metacarpal bones. Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:16826533)
- 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: PCS. Frequency: 2/3. (PMID:3066902)
- Anonychia (HP:0001798): Aplasia of the nail. Evidence: TAS. (OMIM:276820)