Phenotypes associated with the disease Contractures-developmental delay-Pierre Robin syndrome (ORPHA:436003):
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:436003)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:436003)
- Glossoptosis (HP:0000162): Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:436003)
- 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: Frequent (HP:0040282). (ORPHA:436003)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:436003)
- Overfolded helix (HP:0000396): A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:436003)
- Arachnodactyly (HP:0001166): Abnormally long and slender fingers (spider fingers). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:436003)
- Abnormal finger morphology (HP:0001167): An anomaly of a finger. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:436003)
- Hip dysplasia (HP:0001385): The presence of developmental dysplasia of the hip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:436003)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:436003)
- Obstructive sleep apnea (HP:0002870): Obstructive Sleep Apnea is a condition characterized by the obstruction of the airway and pauses in breathing during sleep, which occur multiple times throughout the night. It is related to the relaxation of muscle tone that typically happens during sleep, leading to a partial collapse of the soft tissues in the airway and causing airflow obstruction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:436003)
- Radioulnar synostosis (HP:0002974): An abnormal osseous union (fusion) between the radius and the ulna. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:436003)
- Syringomyelia (HP:0003396): Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:436003)
- Short thumb (HP:0009778): Hypoplasia (congenital reduction in size) of the thumb. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:436003)
- Cerebral white matter hypoplasia (HP:0012430): Underdevelopment of the cerebral white matter. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:436003)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436003)
- 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. Frequency: Occasional (HP:0040283). (ORPHA:436003)
- Lop ear (HP:0000394): Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436003)
- Underdeveloped nasal alae (HP:0000430): Thinned, deficient, or excessively arched ala nasi. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436003)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436003)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436003)
- Iris coloboma (HP:0000612): A coloboma of the iris. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436003)
- Wrist flexion contracture (HP:0001239): A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436003)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436003)
- Metatarsus adductus (HP:0001840): The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436003)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436003)
- Sleep disturbance (HP:0002360): An abnormal pattern in the quality, quantity, or characteristics of sleep. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436003)
- Abnormality of frontal sinus (HP:0002687): An abnormality of the frontal sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The frontal sinus is located within the frontal bone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436003)
- High, narrow palate (HP:0002705): The presence of a high and narrow palate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436003)
- Thoracolumbar scoliosis (HP:0002944). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436003)
- Peripheral pulmonary artery stenosis (HP:0004969): Stenosis of a peripheral branch of the pulmonary artery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436003)
- Chiari type I malformation (HP:0007099): Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436003)
- Focal-onset seizure (HP:0007359): A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436003)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436003)
- Abnormal columella morphology (HP:0009929): A structural abnormality of the columella. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436003)
- Abnormal hippocampus morphology (HP:0025100): Any structural anomaly of the hippocampus,. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:436003)