Phenotypes associated with the disease Chitayat syndrome (OMIM:617180):
- Narrow forehead (HP:0000341): Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). Evidence: PCS. Frequency: 1/6. (PMID:27738187;PMID:30569521)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/4. (PMID:27738187)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: PCS. Frequency: 1/6. (PMID:27738187;PMID:30569521)
- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: PCS. Frequency: 3/6. (PMID:27738187;PMID:30569521)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: PCS. Frequency: 5/5. (PMID:27738187)
- 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. Onset: Childhood onset (HP:0011463). (PMID:27738187)
- Bronchomalacia (HP:0002780): Weakness or softness of the cartilage in the walls of the bronchial tubes. Evidence: PCS. Frequency: 2/6. (PMID:27738187;PMID:30569521)
- Short columella (HP:0002000): Reduced distance from the anterior border of the naris to the subnasale. Evidence: TAS. (OMIM:617180)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 1/6. (PMID:27738187;PMID:30569521)
- Short middle phalanx of the 5th finger (HP:0004220): Hypoplastic/small middle phalanx of the fifth finger. Evidence: PCS. Frequency: 3/3. (PMID:27738187;PMID:30569521)
- 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: 1/6. (PMID:27738187;PMID:30569521)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: PCS. Frequency: 1/5. (PMID:27738187)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: PCS. Frequency: 4/6. (PMID:27738187;PMID:30569521)
- Short proximal phalanx of hallux (HP:0010107): Underdevelopment (hypoplasia) of the proximal phalanx of big toe. Evidence: PCS. Frequency: 2/2. (PMID:27738187)
- Thick vermilion border (HP:0012471): Increased width of the skin of vermilion border region of upper lip. Evidence: PCS. Frequency: 1/1. (PMID:27738187)
- 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: 5/5. (PMID:27738187;PMID:30569521)
- Hallux valgus (HP:0001822): Lateral deviation of the great toe (i.e., in the direction of the little toe). Evidence: PCS. Frequency: 5/5. (PMID:27738187)
- Tracheomalacia (HP:0002779). Evidence: PCS. Frequency: 1/6. (PMID:27738187;PMID:30569521)
- Patent ductus arteriosus (HP:0001643): 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: PCS. Frequency: 2/6. (PMID:27738187;PMID:30569521)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/1. (PMID:30569521)
- Flat occiput (HP:0005469): Reduced convexity of the occiput (posterior part of skull). Evidence: PCS. Frequency: 1/6. (PMID:27738187;PMID:30569521)
- 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: 1/6. (PMID:27738187;PMID:30569521)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: PCS. Frequency: 3/6. (PMID:27738187;PMID:30569521)
- 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: 1/5. (PMID:27738187)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 2/6. (PMID:27738187;PMID:30569521)
- Finger hyperphalangy (HP:0030367): Hyperphalangy is a digit morphology in which increased numbers of phalanges are arranged linearly within a digit. That is, there is an accessory phalanx that is arranged linearly with the other phalanges. Evidence: PCS. Frequency: 2/6. (PMID:27738187;PMID:30569521)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: PCS. Frequency: 6/6. (PMID:27738187;PMID:30569521)
- 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: PCS. Frequency: 1/1. (PMID:30569521)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 4/4. (PMID:27738187;PMID:30569521)
- Interstitial emphysema (HP:0032965): Interstitial emphysema is characterized by air dissecting within the interstitium of the lung, typically in the peribronchovascular sheaths, interlobular septa, and visceral pleura. It is most commonly seen in neonates receiving mechanical ventilation. It is rarely recognized radiographically in adults and is infrequently seen on CT scans. It appears as perivascular lucent or low attenuating halos and small cysts. Evidence: PCS. Frequency: 1/6. (PMID:27738187;PMID:30569521)
- 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: 3/4. (PMID:27738187)
- Diaphragmatic eventration (HP:0009110): A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development. Evidence: PCS. Frequency: 1/6. (PMID:27738187;PMID:30569521)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: PCS. Frequency: 4/6. (PMID:27738187;PMID:30569521)
- Short middle phalanx of the 2nd finger (HP:0009577): Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger. Evidence: PCS. Frequency: 3/3. (PMID:27738187;PMID:30569521)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: PCS. Frequency: 2/2. (PMID:27738187;PMID:30569521)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 3/6. (PMID:27738187;PMID:30569521)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: PCS. Frequency: 2/6. (PMID:27738187;PMID:30569521)
- Short 2nd finger (HP:0009536): Hypoplasia of the second finger, also known as the index finger. Evidence: PCS. Frequency: 2/2. (PMID:27738187)
- 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:27738187)