Phenotypes associated with the disease Acro-renal-mandibular syndrome (ORPHA:958):
- Posteriorly rotated ears (HP:0000358): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:958)
- Split hand (HP:0001171): A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:958)
- Split foot (HP:0001839): A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:958)
- Hypoplasia of the radius (HP:0002984): Underdevelopment of the radius. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:958)
- Hypoplasia of the ulna (HP:0003022): Underdevelopment of the ulna. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:958)
- Rudimentary fibula (HP:0006381): Absent or nearly absent fibula. (Does not include aplastic). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:958)
- Rudimentary to absent tibiae (HP:0006426). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:958)
- Renal hypoplasia/aplasia (HP:0008678): Absence or underdevelopment of the kidney. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:958)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:958)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:958)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:958)
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:958)
- Bicornuate uterus (HP:0000813): The presence of a bicornuate uterus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:958)
- Thin ribs (HP:0000883): Ribs with a reduced diameter. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:958)
- Abnormal clavicle morphology (HP:0000889): Any abnormality of the clavicles (collar bones). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:958)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:958)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:958)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:958)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:958)
- Uterus didelphys (HP:0003762): A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:958)
- Abnormality of the sense of smell (HP:0004408): An anomaly in the ability to perceive and distinguish scents (odors). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:958)
- Hypoplasia of the zygomatic bone (HP:0010669): Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:958)
- Orofacial cleft (HP:0000202): The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:958)
- Narrow face (HP:0000275): Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:958)
- Short philtrum (HP:0000322): Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:958)
- 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:958)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:958)
- Hypoplastic scapulae (HP:0000882): Underdeveloped scapula. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:958)
- Sprengel anomaly (HP:0000912): A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:958)
- Abnormal lung lobation (HP:0002101): A developmental defect in the formation of pulmonary lobes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:958)
- Tracheoesophageal fistula (HP:0002575): An abnormal connection (fistula) between the esophagus and the trachea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:958)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:958)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:958)
- Hemivertebrae (HP:0002937): Absence of one half of the vertebral body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:958)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:958)
- Finger syndactyly (HP:0006101): Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:958)
- Aplasia/Hypoplasia of the tongue (HP:0010295): Absence or underdevelopment of the tongue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:958)