Phenotypes associated with the disease rhizomelic dysplasia, Ain-Naz type (OMIM:619598):
- Severe short stature (HP:0003510): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: PCS. Frequency: 6/6. (PMID:32591345;PMID:36097642;PMID:35427807)
- Enlarged joints (HP:0003037): Increase in size of one or more joints. Evidence: PCS. Frequency: 6/6. (PMID:32591345;PMID:36097642;PMID:35427807)
- Large hands (HP:0001176). Evidence: PCS. Frequency: 5/5. (PMID:32591345;PMID:35427807)
- Distal humeral metaphyseal irregularity (HP:0003951): Irregularity of the normally smooth surface of the metaphysis at the distal end of the humerus (at the elbow). Evidence: PCS. Frequency: 1/1. (PMID:35427807)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:36097642)
- Rhizomelia (HP:0008905): Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). Evidence: PCS. Frequency: 6/6. (PMID:32591345;PMID:36097642;PMID:35427807)
- Limitation of joint mobility (HP:0001376): A reduction in the freedom of movement of one or more joints. Evidence: PCS. Frequency: 6/6. (PMID:32591345;PMID:36097642;PMID:35427807)
- Squared iliac bones (HP:0003177): A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance. Evidence: PCS. Frequency: 1/1. (PMID:36097642)
- Short femur (HP:0003097): An abnormal shortening of the femur. Evidence: PCS. Frequency: 2/2. (PMID:32591345;PMID:35427807)
- Short humerus (HP:0005792): Underdevelopment of the humerus. Evidence: PCS. Frequency: 2/2. (PMID:32591345;PMID:35427807)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/1. (PMID:35427807)
- Short femoral neck (HP:0100864): An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: PCS. Frequency: 3/3. (PMID:32591345;PMID:36097642;PMID:35427807)
- Aplasia of the femoral head (HP:0100862). Evidence: PCS. Frequency: 1/1. (PMID:32591345)
- Contracture of the proximal interphalangeal joint of the 5th finger (HP:0009185): Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. Evidence: PCS. Frequency: 1/1. (PMID:35427807)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: PCS. Frequency: 1/1. (PMID:36097642)
- 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: PCS. Frequency: 1/1. (PMID:35427807)
- 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: 1/6. (PMID:32591345;PMID:36097642;PMID:35427807)
- Overlapping toe (HP:0001845): Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. Initially clawing may be dynamic and only noticeable on walking. Over time the plantar plate tears, subluxation occurs at the metatarsophalangeal joint (MTPJ), and the deformity becomes permanent. Evidence: PCS. Frequency: 1/1. (PMID:35427807)
- Hallux valgus (HP:0001822): Lateral deviation of the great toe (i.e., in the direction of the little toe). Evidence: PCS. Frequency: 1/1. (PMID:35427807)
- Intellectual disability (HP:0001249): 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: PCS. Frequency: 0/6. (PMID:32591345;PMID:36097642;PMID:35427807)
- Hip dysplasia (HP:0001385): The presence of developmental dysplasia of the hip. Evidence: PCS. Frequency: 2/2. (PMID:32591345;PMID:35427807)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 1/6. (PMID:32591345;PMID:36097642;PMID:35427807)
- Abnormality of alkaline phosphatase level (HP:0004379): An abnormality of alkaline phosphatase level. Evidence: PCS. Frequency: 0/1. (PMID:35427807)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 1/6. (PMID:32591345;PMID:36097642;PMID:35427807)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/1. (PMID:36097642)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: PCS. Frequency: 6/6. (PMID:32591345;PMID:36097642;PMID:35427807)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: PCS. Frequency: 1/1. (PMID:36097642)
- Posterior scalloping of vertebral bodies (HP:0005121): An excessive concavity of the posterior surface of one or more vertebral bodies. Evidence: PCS. Frequency: 1/1. (PMID:36097642)
- Proximal humeral metaphyseal irregularity (HP:0005043): Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder). Evidence: PCS. Frequency: 1/1. (PMID:35427807)
- 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: PCS. Frequency: 1/1. (PMID:36097642)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 2/2. (PMID:32591345;PMID:35427807)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: PCS. Frequency: 1/6. (PMID:32591345;PMID:36097642;PMID:35427807)
- Flaring of rib cage (HP:0000904): The presence of wide, concave anterior rib ends. Evidence: PCS. Frequency: 1/1. (PMID:36097642)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: PCS. Frequency: 1/1. (PMID:36097642)
- Long foot (HP:0001833): Increased back to front length of the foot. Evidence: PCS. Frequency: 5/5. (PMID:32591345;PMID:35427807)
- Wide distal femoral metaphysis (HP:0006387): Increased width of the distal part of the shaft (metaphysis) of the femur. Evidence: PCS. Frequency: 2/2. (PMID:32591345;PMID:35427807)
- 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:32591345)
- Bowed forearm bones (HP:0003956): A bending or abnormal curvature affecting either the radius, the ulna, or both. Evidence: PCS. Frequency: 1/1. (PMID:36097642)
- Protuberant abdomen (HP:0001538): A thrusting or bulging out of the abdomen. Evidence: PCS. Frequency: 1/1. (PMID:36097642)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Frequency: 1/6. (PMID:32591345;PMID:36097642;PMID:35427807)
- Wormian bones (HP:0002645): The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. Evidence: PCS. Frequency: 1/1. (PMID:36097642)