Phenotypes associated with the disease Rapp-Hodgkin syndrome (OMIM:129400):
- Velopharyngeal insufficiency (HP:0000220): Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech. Evidence: IEA. (OMIM:129400)
- Small nail (HP:0001792): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: IEA. (OMIM:129400)
- Progressive alopecia (HP:0002287): Progressive loss of hair. Evidence: IEA. (OMIM:129400)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: IEA. (OMIM:129400)
- Short stature (HP:0004322): 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: IEA. (OMIM:129400)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: PCS. Frequency: 1/1. (PMID:12766194)
- Narrow nose (HP:0000460): Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae. Evidence: IEA. (OMIM:129400)
- Uncombable hair (HP:0030056): Hair that is disorderly, stands out from the scalp, and cannot be combed flat. Evidence: PCS. Frequency: 1/1. (PMID:12766194)
- Absent lacrimal punctum (HP:0001092): No identifiable superior and/or inferior lacrimal punctum. Evidence: PCS. Frequency: 1/1. (PMID:12766194)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: PCS. Frequency: 1/1. (PMID:12766194)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 20/20. (OMIM:129400)
- Onychogryphosis (HP:0001805): Onychogryphosis is a disorder of nail plate growth that is clinically characterized by an opaque, yellow-brown thickening of the nail plate with associated gross hyperkeratosis, elongation, and increased curvature. Evidence: IEA. (OMIM:129400)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: PCS. Frequency: 1/1. (PMID:12766194)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: PCS. Frequency: 1/1. (PMID:12766194)
- 2-3 toe cutaneous syndactyly (HP:0005709). Evidence: PCS. Frequency: 1/1. (PMID:12766194)
- Taurodontia (HP:0000679): Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots. Evidence: PCS. Frequency: 1/1. (PMID:12766194)
- Decreased number of sweat glands (HP:0007500): The presence of fewer than normal sweat glands. Evidence: IEA. (OMIM:129400)
- Hypoplastic labia majora (HP:0000059): Undergrowth of the outer labia. Evidence: IEA. (OMIM:129400)
- Sparse eyelashes (HP:0000653): Decreased density/number of eyelashes. Evidence: PCS. Frequency: 1/1. (PMID:12766194)
- Slow-growing hair (HP:0002217): Hair whose growth is slower than normal. Evidence: PCS. Frequency: 1/1. (PMID:12766194)
- Supernumerary nipple (HP:0002558): Presence of more than two nipples. Evidence: PCS. Frequency: 1/1. (PMID:12766194)
- Small, conical teeth (HP:0200141). Evidence: TAS. (OMIM:129400)
- Conical tooth (HP:0000698): An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. Evidence: TAS. (OMIM:129400)
- Pili canaliculi (HP:0002235): A characteristic triangular, kidney- or heat-shaped diameter of hair shafts with typical longitudinal canalicular deformation as observable by scanning electron microscopy. Evidence: IEA. (OMIM:129400)
- Fine hair (HP:0002213): Hair that is fine or thin to the touch. Evidence: PCS. (OMIM:129400)
- 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: PCS. Frequency: 1/1. (PMID:12766194)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: PCS. Frequency: 1/1. (PMID:12766194)
- Underdeveloped nasal alae (HP:0000430): Thinned, deficient, or excessively arched ala nasi. Evidence: IEA. (OMIM:129400)
- Bifid uvula (HP:0000193): Uvula separated into two parts most easily seen at the tip. Evidence: IEA. (OMIM:129400)
- Microdontia (HP:0000691): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: TAS. (OMIM:129400)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: IEA. (OMIM:129400)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: IEA. (OMIM:129400)
- Hypoplasia of the maxilla (HP:0000327): Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. Evidence: IEA. (OMIM:129400)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: PCS. Frequency: 1/1. (PMID:12766194)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: IEA. (OMIM:129400)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: IEA. (OMIM:129400)
- Anhidrotic ectodermal dysplasia (HP:0007476). Evidence: IEA. (OMIM:129400)
- Hypohidrosis (HP:0000966): Abnormally diminished capacity to sweat. Evidence: IEA. (OMIM:129400)
- Syndactyly (HP:0001159): Webbing or fusion of the fingers or 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 fingers or toes in a proximo-distal axis are referred to as "symphalangism". Evidence: IEA. (OMIM:129400)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. Frequency: 1/1. (PMID:12766194)
- 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: IEA. (OMIM:129400)
- Palmoplantar keratoderma (HP:0000982): Abnormal thickening of the skin of the palms of the hands and the soles of the feet. Evidence: PCS. Frequency: 1/1. (PMID:12766194)
- Thin skin (HP:0000963): Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. Evidence: IEA. (OMIM:129400)
- Cleft upper lip (HP:0000204): 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: PCS. Frequency: 1/1. (PMID:12766194)
- Autosomal dominant inheritance (HP:0000006): 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: IEA. (OMIM:129400)
- Stenosis of the external auditory canal (HP:0000402): An abnormal narrowing of the external auditory canal. Evidence: PCS. Frequency: 1/1. (PMID:12766194)