- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 3/3. (PMID:33242826)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: PCS. Frequency: 1/3. (PMID:33242826)
- 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: PCS. Frequency: 3/3. (PMID:33242826)
- Ulnar bowing (HP:0003031): Bending of the diaphysis (shaft) of the ulna. Evidence: PCS. Frequency: 3/3. (PMID:33242826)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 1/3. (PMID:33242826)
- Hypoplastic acetabulae (HP:0003274): Underdeveloped acetabulae. Evidence: PCS. Frequency: 3/3. (PMID:33242826)
- Relative macrocephaly (HP:0004482): A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account. Evidence: PCS. Frequency: 2/3. (PMID:33242826)
- Short 1st metacarpal (HP:0010034): A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand. Evidence: PCS. Frequency: 1/3. (PMID:33242826)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: PCS. Frequency: 3/3. (PMID:33242826)
- Ulnar deviation of the hand (HP:0009487): Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger). Evidence: PCS. Frequency: 3/3. (PMID:33242826)
- Short sternum (HP:0000879): Decreased inferosuperior length of the sternum. Evidence: PCS. Frequency: 2/3. (PMID:33242826)
- Wide intermamillary distance (HP:0006610): A larger than usual distance between the left and right nipple. Evidence: PCS. Frequency: 2/3. (PMID:33242826)
- Cystic hygroma (HP:0000476): A cystic lymphatic lesion of the neck. Evidence: PCS. Frequency: 1/3. (PMID:33242826)
- Short ribs (HP:0000773): Reduced rib length. Evidence: PCS. Frequency: 1/3. (PMID:33242826)
- Bowed humerus (HP:0003865): A bending or abnormal curvature of the humerus. Evidence: PCS. Frequency: 2/3. (PMID:33242826)
- 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: PCS. Frequency: 1/1. (PMID:33242826)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: PCS. Frequency: 3/3. (PMID:33242826)
- Thickened nuchal skin fold (HP:0000474): A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome. Evidence: PCS. Frequency: 1/3. (PMID:33242826)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: PCS. Frequency: 3/3. (PMID:33242826)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 2/3. (PMID:33242826)
- Short lower limbs (HP:0006385): Shortening of the legs related to developmental hypoplasia of the bones of the leg. Evidence: PCS. Frequency: 2/3. (PMID:33242826)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 3/3. (PMID:33242826)
- 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:33242826)
- Arthrogryposis multiplex congenita (HP:0002804): Multiple congenital contractures in different body areas. Evidence: PCS. Frequency: 3/3. (PMID:33242826)
- Coronal cleft vertebrae (HP:0003417): Frontal schisis (cleft or cleavage) of vertebral bodies. Evidence: PCS. Frequency: 2/3. (PMID:33242826)
- Butterfly vertebrae (HP:0003316): A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray. Evidence: PCS. Frequency: 1/3. (PMID:33242826)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 3/3. (PMID:33242826)
- Webbed neck (HP:0000465): Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. Evidence: PCS. Frequency: 2/3. (PMID:33242826)
- 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: PCS. Frequency: 1/3. (PMID:33242826)
- Thin ribs (HP:0000883): Ribs with a reduced diameter. Evidence: PCS. Frequency: 1/3. (PMID:33242826)
- Hypoplastic iliac wing (HP:0002866): Underdevelopment of the ilium ala. Evidence: PCS. Frequency: 1/3. (PMID:33242826)
- Short tibia (HP:0005736): Underdevelopment (reduced size) of the tibia. Evidence: PCS. Frequency: 3/3. (PMID:33242826)
- Shawl scrotum (HP:0000049): Superior margin of the scrotum superior to the base of the penis. Evidence: PCS. Frequency: 1/1. (PMID:33242826)
These phenotypes are associated with the disease bent bone dysplasia syndrome 2 (OMIM:620076).