Phenotypes associated with the disease Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199):
- 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: Very frequent (HP:0040281). (ORPHA:85199)
- Abnormal palate morphology (HP:0000174): Any abnormality of the palate, i.e., of roof of the mouth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85199)
- Brachycephaly (HP:0000248): An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85199)
- Wide anterior fontanel (HP:0000260): Enlargement of the anterior fontanelle with respect to age-dependent norms. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85199)
- Delayed cranial suture closure (HP:0000270): Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85199)
- Absent eyelashes (HP:0000561): Lack of eyelashes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85199)
- Abnormal dental enamel morphology (HP:0000682): An abnormality of the dental enamel. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85199)
- Abnormal clavicle morphology (HP:0000889): Any abnormality of the clavicles (collar bones). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85199)
- Eczematoid dermatitis (HP:0000964): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85199)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85199)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85199)
- Absent eyebrow (HP:0002223): Absence of the eyebrow. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85199)
- Parietal foramina (HP:0002697): The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85199)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed 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: Very frequent (HP:0040281). (ORPHA:85199)
- Ectopic anus (HP:0004397): Abnormal displacement or malposition of the anus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85199)
- Coronal craniosynostosis (HP:0004440): Premature closure of the coronal suture of skull. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85199)
- Large posterior fontanelle (HP:0004491): An enlargement of the posterior fontanelle relative to age-dependent norms. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85199)
- Abnormal dental morphology (HP:0006482): An abnormality of the morphology of the tooth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85199)
- Aplastic clavicle (HP:0006660): Absence of the clavicles as a developmental defect. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85199)
- Tarsal synostosis (HP:0008368): Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85199)
- Short thorax (HP:0010306): Reduced inferior to superior extent of the thorax. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85199)
- Thin fingernail (HP:0012742): Fingernail that appears thin when viewed on end. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85199)
- Urogenital fistula (HP:0100589): The presence of a fistula affecting the genitourinary system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85199)
- Porokeratosis (HP:0200044): A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85199)
- Wide mouth (HP:0000154): Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85199)
- 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: Frequent (HP:0040282). (ORPHA:85199)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85199)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85199)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85199)
- Intellectual disability (HP:0001249): 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85199)
- Global developmental delay (HP:0001263): 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85199)
- Thick vermilion border (HP:0012471): Increased width of the skin of vermilion border region of upper lip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85199)
- 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:85199)
- Plagiocephaly (HP:0001357): Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85199)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85199)