Phenotypes associated with the disease choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome (OMIM:620186):
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- 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: PCS. Frequency: 1/9. (PMID:31949313)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Broad hallux (HP:0010055): Visible increase in width of the hallux without an increase in the dorso-ventral dimension. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Prominent forehead (HP:0011220): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Ankyloglossia (HP:0010296): Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 2/9. (PMID:31949313)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Natal tooth (HP:0000695): A tooth present at birth or erupting within the first month of life. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Expressive language delay (HP:0002474): A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Choanal atresia (HP:0000453): Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral. Evidence: PCS. Frequency: 2/9. (PMID:31949313)
- Choanal stenosis (HP:0000452): Abnormal narrowing of the choana (the posterior nasal aperture). Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Midface retrusion (HP:0011800): 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: 1/9. (PMID:31949313)
- Unconjugated hyperbilirubinemia (HP:0008282): An increased amount of unconjugated (indirect) bilurubin in the blood. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Third trimester onset (HP:0034197): This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Progressive sensorineural hearing impairment (HP:0000408): A progressive form of sensorineural hearing impairment. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Late first trimester onset (HP:0034199): This term refers to a phenotypic feature that was first observed prior to birth in the first trimester during the early fetal period, which is defined as 11 0/7 to 13 6/7 weeks of gestation (inclusive). Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Second trimester onset (HP:0034198): This term refers to a phenotypic feature that was first observed prior to birth during the second trimester, which comprises the range of gestational ages from 14 0/7 weeks to 27 6/7 (inclusive). Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Amblyopia (HP:0000646): Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- 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: 1/9. (PMID:31949313)
- Thoracic scoliosis (HP:0002943). Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Broad philtrum (HP:0000289): Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- 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: PCS. (PMID:31949313)
- Low-set ears (HP:0000369): 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: PCS. Frequency: 2/9. (PMID:31949313)
- Facial asymmetry (HP:0000324): An abnormal difference between the left and right sides of the face. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Patent foramen ovale (HP:0001655): Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Aplasia of the thymus (HP:0005359): Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Small nail (HP:0001792): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Preauricular pit (HP:0004467): Small indentation anterior to the insertion of the ear. Evidence: PCS. Frequency: 2/9. (PMID:31949313)
- Facial palsy (HP:0010628): Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Absent nipple (HP:0002561): Congenital failure to develop, and absence of, the nipple. Evidence: PCS. Frequency: 2/9. (PMID:31949313)
- Thyroid hypoplasia (HP:0005990): Developmental hypoplasia of the thyroid gland. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Echogenic fetal bowel (HP:0010943): Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone. Evidence: PCS. Frequency: 2/9. (PMID:31949313)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: PCS. Frequency: 2/9. (PMID:31949313)
- Bulbous nose (HP:0000414): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Iris coloboma (HP:0000612): A coloboma of the iris. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Thin upper lip vermilion (HP:0000219): Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). Evidence: PCS. Frequency: 3/9. (PMID:31949313)
- Clinodactyly (HP:0030084): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Low hanging columella (HP:0009765): Columella extending inferior to the level of the nasal base, when viewed from the side. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Downturned corners of mouth (HP:0002714): A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Hypoplastic nipples (HP:0002557): Underdevelopment of the nipple. Evidence: PCS. Frequency: 3/9. (PMID:31949313)
- Congenital hypothyroidism (HP:0000851): A type of hypothyroidism with congenital onset. Evidence: PCS. Frequency: 2/9. (PMID:31949313)
- Mixed hearing impairment (HP:0000410): A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Bilateral conductive hearing impairment (HP:0008513): A bilateral type of conductive hearing impairment. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Prolonged neonatal jaundice (HP:0006579): Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Atresia of the external auditory canal (HP:0000413): Absence or failure to form of the external auditory canal. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Right ventricular hypertrophy (HP:0001667): In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- 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: PCS. Frequency: 1/9. (PMID:31949313)
- 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: PCS. Frequency: 2/9. (PMID:31949313)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- 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: 1/9. (PMID:31949313)
- Lacrimal duct aplasia (HP:0007925): A congenital defect resulting in absence of the lacrimal duct. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- 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: PCS. Frequency: 1/9. (PMID:31949313)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Underdeveloped nasal alae (HP:0000430): Thinned, deficient, or excessively arched ala nasi. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Hydrocele testis (HP:0000034): Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Bifid uvula (HP:0000193): Uvula separated into two parts most easily seen at the tip. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Pulmonary arterial hypertension (HP:0002092): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 2/9. (PMID:31949313)
- Branchial cyst (HP:0009796): A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 2/9. (PMID:31949313)
- Dolichocephaly (HP:0000268): An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- 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: PCS. Frequency: 1/9. (PMID:31949313)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 2/9. (PMID:31949313)
- Optic disc coloboma (HP:0000588): A cleft of the optic nerve that extends inferiorly. Evidence: PCS. Frequency: 1/9. (PMID:31949313)
- Severe sensorineural hearing impairment (HP:0008625): A severe form of sensorineural hearing impairment. Evidence: PCS. Frequency: 2/9. (PMID:31949313)
- Bilateral choanal atresia (HP:0004502): Bilateral absence (atresia) of the posterior nasal aperture (choana). Evidence: PCS. Frequency: 4/9. (PMID:31949313)