Phenotypes associated with the disease Nager acrofacial dysostosis (OMIM:154400, an entry in Online Mendelian Inheritance in Man):
- Toe syndactyly (HP:0001770, a Human Phenotype Ontology term): Webbing or fusion of the toes, 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 toes in a proximo-distal axis are referred to as "Symphalangism". Evidence: IEA. (OMIM:154400)
- Hearing impairment (HP:0000365, a Human Phenotype Ontology term): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 19/20. (PMID:22541558)
- Limited elbow extension (HP:0001377, a Human Phenotype Ontology term): Limited ability to straighten the arm at the elbow joint. Evidence: PCS. Frequency: 3/3. (PMID:22541558)
- Strabismus (HP:0000486, a Human Phenotype Ontology term): 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: PCS. Frequency: 1/1. (PMID:22541558)
- Short stature (HP:0004322, a Human Phenotype Ontology term): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 2/2. (PMID:22541558)
- Unilateral renal agenesis (HP:0000122, a Human Phenotype Ontology term): A unilateral form of agenesis of the kidney. Evidence: IEA. (OMIM:154400)
- Abnormal thumb morphology (HP:0001172, a Human Phenotype Ontology term): An abnormal structure of the first digit of the hand. Evidence: PCS. Frequency: 10/10. (PMID:22541558)
- Foot oligodactyly (HP:0001849, a Human Phenotype Ontology term): A developmental defect resulting in the presence of fewer than the normal number of toes. Evidence: IEA. (OMIM:154400)
- Subglottic stenosis (HP:0001607, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/9. (PMID:22541558)
- Broad hallux (HP:0010055, a Human Phenotype Ontology term): Visible increase in width of the hallux without an increase in the dorso-ventral dimension. Evidence: IEA. (OMIM:154400)
- Overlapping toe (HP:0001845, a Human Phenotype Ontology term): 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. (OMIM:154400)
- Hydrocephalus (HP:0000238, a Human Phenotype Ontology term): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: IEA. (OMIM:154400)
- Radial deviation of finger (HP:0009466, a Human Phenotype Ontology term): Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. Evidence: IEA. (OMIM:154400)
- Patent ductus arteriosus (HP:0001643, a Human Phenotype Ontology term): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:154400)
- Retrognathia (HP:0000278, a Human Phenotype Ontology term): An abnormality in which the mandible is mislocalised posteriorly. Evidence: TAS. (OMIM:154400)
- Absent lower eyelashes (HP:0007646, a Human Phenotype Ontology term): Lack of eyelashes on the lower lid. Evidence: PCS. Frequency: 6/14. (PMID:22541558)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 1/8. (PMID:22541558)
- Posteriorly rotated ears (HP:0000358, a Human Phenotype Ontology term): 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: IEA. (OMIM:154400)
- Radioulnar synostosis (HP:0002974, a Human Phenotype Ontology term): An abnormal osseous union (fusion) between the radius and the ulna. Evidence: PCS. Frequency: 14/18. (PMID:22541558)
- Cervical ribs (HP:0000891, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/1. (PMID:22541558)
- Cleft palate (HP:0000175, a Human Phenotype Ontology term): 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: PCS. Frequency: 5/9. (PMID:22541558)
- Downslanted palpebral fissures (HP:0000494, a Human Phenotype Ontology term): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 20/21. (PMID:22541558)
- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: IEA. (OMIM:154400)
- Trismus (HP:0000211, a Human Phenotype Ontology term): Limitation in the ability to open the mouth. Evidence: IEA. (OMIM:154400)
- Urticaria (HP:0001025, a Human Phenotype Ontology term): Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. Evidence: IEA. (OMIM:154400)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 3/11. (PMID:22541558)
- 4-5 toe syndactyly (HP:0004692, a Human Phenotype Ontology term): Syndactyly with fusion of toes four and five. Evidence: PCS. Frequency: 1/1. (PMID:22541558)
- Midface retrusion (HP:0011800, a Human Phenotype Ontology term): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: PCS. Frequency: 17/17. (PMID:22541558)
- Camptodactyly (HP:0012385, a Human Phenotype Ontology term): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. Evidence: PCS. Frequency: 1/1. (PMID:22541558)
- Hip dislocation (HP:0002827, a Human Phenotype Ontology term): Displacement of the femur from its normal location in the hip joint. Evidence: IEA. (OMIM:154400)
- Absent thumb (HP:0009777, a Human Phenotype Ontology term): Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues. Evidence: PCS. Frequency: 7/22. (PMID:22541558)
- Thumb symphalangism (HP:0009656, a Human Phenotype Ontology term): Congenital fusion (ankylosis) of the interphalangeal joint of the thumb. Evidence: PCS. Frequency: 1/18. (PMID:22541558)
- Abnormality of the cervical spine (HP:0003319, a Human Phenotype Ontology term): Any abnormality of the cervical vertebral column. Evidence: IEA. (OMIM:154400)
- Conductive hearing impairment (HP:0000405, a Human Phenotype Ontology term): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: PCS. Frequency: 6/7. (PMID:22541558)
- Lacrimal duct stenosis (HP:0007678, a Human Phenotype Ontology term): Narrowing of a tear duct (lacrimal duct). Evidence: PCS. Frequency: 3/3. (PMID:22541558)
- Short thumb (HP:0009778, a Human Phenotype Ontology term): Hypoplasia (congenital reduction in size) of the thumb. Evidence: PCS. Frequency: 5/20. (PMID:22541558)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:22541558)
- Cleft upper lip (HP:0000204, a Human Phenotype Ontology term): A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. Evidence: IEA. (OMIM:154400)
- Hypoplasia of the radius (HP:0002984, a Human Phenotype Ontology term): Underdevelopment of the radius. Evidence: PCS. Frequency: 1/1. (PMID:22541558)
- Low-set ears (HP:0000369, a Human Phenotype Ontology term): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: IEA. (OMIM:154400)
- Stenosis of the external auditory canal (HP:0000402, a Human Phenotype Ontology term): An abnormal narrowing of the external auditory canal. Evidence: PCS. Frequency: 2/13. (PMID:22541558)
- Facial asymmetry (HP:0000324, a Human Phenotype Ontology term): An abnormal difference between the left and right sides of the face. Evidence: PCS. Frequency: 1/1. (PMID:22541558)
- Laryngeal hypoplasia (HP:0008749, a Human Phenotype Ontology term): Underdevelopment of the larynx. Evidence: IEA. (OMIM:154400)
- Triphalangeal thumb (HP:0001199, a Human Phenotype Ontology term): A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. Evidence: IEA. (OMIM:154400)
- Velopharyngeal insufficiency (HP:0000220, a Human Phenotype Ontology term): Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech. Evidence: PCS. Frequency: 1/1. (PMID:22541558)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 9/9. (PMID:22541558)
- Preauricular skin tag (HP:0000384, a Human Phenotype Ontology term): A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear). Evidence: IEA. (OMIM:154400)
- Short hallux (HP:0010109, a Human Phenotype Ontology term): Underdevelopment (hypoplasia) of the big toe. Evidence: PCS. Frequency: 1/1. (PMID:22541558)
- Cleft soft palate (HP:0000185, a Human Phenotype Ontology term): Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency. Evidence: PCS. Frequency: 1/18. (PMID:22541558)
- Short 1st metacarpal (HP:0010034, a Human Phenotype Ontology term): A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand. Evidence: PCS. Frequency: 2/2. (PMID:22541558)
- Ventricular septal defect (HP:0001629, a Human Phenotype Ontology term): 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: PCS. Frequency: 2/9. (PMID:22541558)
- Hallux valgus (HP:0001822, a Human Phenotype Ontology term): Lateral deviation of the great toe (i.e., in the direction of the little toe). Evidence: PCS. Frequency: 1/9. (PMID:22541558)
- Aplasia/Hypoplasia of the thumb (HP:0009601, a Human Phenotype Ontology term): Hypoplastic/small or absent thumb. Evidence: IEA. (OMIM:154400)
- Bicornuate uterus (HP:0000813, a Human Phenotype Ontology term): The presence of a bicornuate uterus. Evidence: IEA. (OMIM:154400)
- Clinodactyly (HP:0030084, a Human Phenotype Ontology term): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: TAS. (OMIM:154400)
- Cupped ear (HP:0000378, a Human Phenotype Ontology term): Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). Evidence: PCS. Frequency: 3/13. (PMID:22541558)
- Abnormal pinna morphology (HP:0000377, a Human Phenotype Ontology term): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: PCS. Frequency: 15/15. (PMID:22541558)
- Bilateral radial aplasia (HP:0004977, a Human Phenotype Ontology term): Missing radius bone on both sides associated with congenital failure of development. Evidence: PCS. Frequency: 1/1. (PMID:22541558)
- Gastroschisis (HP:0001543, a Human Phenotype Ontology term): A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus. Evidence: IEA. (OMIM:154400)
- Lower eyelid coloboma (HP:0000652, a Human Phenotype Ontology term): A short discontinuity of the margin of the lower eyelid. Evidence: IEA. (OMIM:154400)
- Atresia of the external auditory canal (HP:0000413, a Human Phenotype Ontology term): Absence or failure to form of the external auditory canal. Evidence: IEA. (OMIM:154400)
- Congenital diaphragmatic hernia (HP:0000776, a Human Phenotype Ontology term): The presence of a hernia of the diaphragm present at birth. Evidence: PCS. Frequency: 1/9. (PMID:22541558)
- Hypoplasia of first ribs (HP:0006657, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:154400)
- Hypoplasia of the epiglottis (HP:0005349, a Human Phenotype Ontology term): Hypoplasia of the epiglottis. Evidence: IEA. (OMIM:154400)
- Premature birth (HP:0001622, a Human Phenotype Ontology term): The birth of a baby of less than 37 weeks of gestational age. Evidence: IEA. (OMIM:154400)
- Aqueductal stenosis (HP:0002410, a Human Phenotype Ontology term): Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum. Evidence: IEA. (OMIM:154400)
- Wide mouth (HP:0000154, a Human Phenotype Ontology term): Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). Evidence: IEA. (OMIM:154400)
- Delayed speech and language development (HP:0000750, a Human Phenotype Ontology term): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 2/7. (PMID:22541558)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: IEA. (OMIM:154400)
- Talipes equinovarus (HP:0001762, a Human Phenotype Ontology term): 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: 1/1. (PMID:22541558)
- Aganglionic megacolon (HP:0002251, a Human Phenotype Ontology term): An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. Evidence: IEA. (OMIM:154400)
- Malar flattening (HP:0000272, a Human Phenotype Ontology term): 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:154400)
- Temporomandibular joint ankylosis (HP:0012478, a Human Phenotype Ontology term): Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening. Evidence: PCS. Frequency: 2/4. (PMID:22541558)
- Prominent nasal bridge (HP:0000426, a Human Phenotype Ontology term): Anterior positioning of the nasal root in comparison to the usual positioning for age. Evidence: IEA. (OMIM:154400)
- Tetralogy of Fallot (HP:0001636, a Human Phenotype Ontology term): A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. Evidence: IEA. (OMIM:154400)
- Preauricular hair displacement (HP:0009554, a Human Phenotype Ontology term): An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones. Evidence: PCS. Frequency: 1/1. (PMID:22541558)
- Short 5th finger (HP:0009237, a Human Phenotype Ontology term): Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. Evidence: PCS. Frequency: 1/1. (PMID:22541558)
- Sparse lower eyelashes (HP:0007776, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 5/14. (PMID:22541558)
- Absent radius (HP:0003974, a Human Phenotype Ontology term): Missing radius bone associated with congenital failure of development. Evidence: PCS. Frequency: 1/7. (PMID:22541558)
- Micrognathia (HP:0000347, a Human Phenotype Ontology term): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 23/24. (PMID:22541558)
- Mitral valve prolapse (HP:0001634, a Human Phenotype Ontology term): One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. Evidence: PCS. Frequency: 1/1. (PMID:22541558)
- Polymicrogyria (HP:0002126, a Human Phenotype Ontology term): Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). Evidence: IEA. (OMIM:154400)
- Short toe (HP:0001831, a Human Phenotype Ontology term): A toe that appears disproportionately short compared to the foot. Evidence: IEA. (OMIM:154400)