- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3144)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3144)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3144)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3144)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3144)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3144)
- Short ribs (HP:0000773): Reduced rib length. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3144)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3144)
- Hypoplastic scapulae (HP:0000882): Underdeveloped scapula. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3144)
- Lateral clavicle hook (HP:0000895): An excessive upward convexity of the lateral clavicle. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3144)
- Abnormal metaphysis morphology (HP:0000944): An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3144)
- Hypoplastic ilia (HP:0000946): Underdevelopment of the ilium. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3144)
- Dumbbell-shaped long bone (HP:0000947): An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3144)
- Lymphedema (HP:0001004): Localized fluid retention and tissue swelling caused by a compromised lymphatic system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3144)
- Abnormal fingernail morphology (HP:0001231): An abnormality of the fingernails. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3144)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3144)
- Hypoplastic toenails (HP:0001800): Underdevelopment of the toenail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3144)
- Micromelia (HP:0002983): The presence of abnormally small extremities. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3144)
- Fibular hypoplasia (HP:0003038): Underdevelopment of the fibula. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3144)
- Abnormal vertebral body morphology (HP:0003312): Abnormal form of vertebral body, which is the central cylindrical portion of the vertebra that together with other structures such as the vertebral arch, pedicles, laminae, spinous process, transverse processes, and articular facets makes up a vertebra. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3144)
- Diaphyseal undertubulation (HP:0005019): Tubulation refers to the size and shape of tubular bones. In children and adolescents, the modeling process regulates normal bone growth. Final shaft (tube) diameter depends on appositional bone growth and the equilibrium between periosteal and endosteal bone resorption and formation. Undertubulation refers to a broad, widened form of the shafts (diaphyses) of long bones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3144)
- Accelerated skeletal maturation (HP:0005616): An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3144)
- Advanced tarsal ossification (HP:0008108): Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3144)
- Hypoplastic vertebral bodies (HP:0008479). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3144)
- 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. Frequency: Very frequent (HP:0040281). (ORPHA:3144)
- Increased fibular diameter (HP:0012107): Increased width of the cross sectional diameter of the fibula. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3144)
These phenotypes are associated with the disease Schneckenbecken dysplasia (ORPHA:3144).