- 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:258315)
- Fibular hypoplasia (HP:0003038): Underdevelopment of the fibula. Evidence: TAS. (OMIM:258315)
- 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: IEA. (OMIM:258315)
- Rhizomelia (HP:0008905): Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). Evidence: IEA. (OMIM:258315)
- Limited elbow extension (HP:0001377): Limited ability to straighten the arm at the elbow joint. Evidence: TAS. (OMIM:258315)
- Blepharophimosis (HP:0000581): A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. Evidence: IEA. (OMIM:258315)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: IEA. (OMIM:258315)
- Short humerus (HP:0005792): Underdevelopment of the humerus. Evidence: IEA. (OMIM:258315)
- Increased fibular diameter (HP:0012107): Increased width of the cross sectional diameter of the fibula. Evidence: TAS. (OMIM:258315)
- Anterolateral radial head dislocation (HP:0005050): A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction. Evidence: TAS. (OMIM:258315)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: TAS. (OMIM:258315)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: IEA. (OMIM:258315)
- Disproportionate short-limb short stature (HP:0008873): A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. Evidence: TAS. (OMIM:258315)
- Limited elbow flexion (HP:0006376). Evidence: TAS. (OMIM:258315)
- Pulmonary artery stenosis (HP:0004415): An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. Evidence: IEA. (OMIM:258315)
- Hemangioma (HP:0001028): A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma). Evidence: IEA. (OMIM:258315)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: IEA. (OMIM:258315)
- Hypoplastic distal humeri (HP:0005025): Underdevelopment of the distal portion of the humerus. Evidence: IEA. (OMIM:258315)
- Limited knee extension (HP:0003066): Reduced ability to extend (straighten) the knee joint. Evidence: TAS. (OMIM:258315)
- Malar flattening (HP:0000272): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: IEA. (OMIM:258315)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: IEA. (OMIM:258315)
- Narrow palpebral fissure (HP:0045025): Reduction in the vertical distance between the upper and lower eyelids. Evidence: IEA. (OMIM:258315)
- Limited knee flexion/extension (HP:0005085): A limited ability of the knee joint to perform extension and flexion. Evidence: TAS. (OMIM:258315)
- Axillary pterygium (HP:0001060): Presence of a cutaneous membrane (flap) in the armpit. Evidence: TAS. (OMIM:258315)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: IEA. (OMIM:258315)
- Limited elbow flexion/extension (HP:0005060). Evidence: TAS. (OMIM:258315)
- Umbilical hernia (HP:0001537): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: IEA. (OMIM:258315)
- 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:258315)
- Limited knee flexion (HP:0006389): Reduced ability to flex (bend) the knee joint. Evidence: TAS. (OMIM:258315)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: IEA. (OMIM:258315)
- Limited hip movement (HP:0008800): A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip. Evidence: TAS. (OMIM:258315)
- Atrial septal defect (HP:0001631): 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: IEA. (OMIM:258315)
- Short tibia (HP:0005736): Underdevelopment (reduced size) of the tibia. Evidence: TAS. (OMIM:258315)
- Popliteal pterygium (HP:0009756): A pterygium (or pterygia) occurring in the popliteal region (the back of the knee). Evidence: TAS. (OMIM:258315)
- 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:258315)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: IEA. (OMIM:258315)
These phenotypes are associated with the disease autosomal recessive omodysplasia (OMIM:258315).