Phenotypes associated with the disease Brachytelephalangic chondrodysplasia punctata (ORPHA:79345):
- Butterfly vertebrae (HP:0003316): A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- C1-C2 subluxation (HP:0003320): A partial dislocation of the atlantoaxial joints. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Spinal canal stenosis (HP:0003416): An abnormal narrowing of the spinal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Coronal cleft vertebrae (HP:0003417): Frontal schisis (cleft or cleavage) of vertebral bodies. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Atlantoaxial instability (HP:0003467): Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Calcaneal epiphyseal stippling (HP:0004695): The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Respiratory failure requiring assisted ventilation (HP:0004887): A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Vertebral hypoplasia (HP:0008417): Small, underdeveloped vertebral bodies. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Hypoplastic cervical vertebrae (HP:0008434). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Cervical spinal canal stenosis (HP:0008445): An abnormal narrowing of the cervical spinal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Cervical vertebral dysplasia (HP:0008469): Dysplasia of the cervical vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Laryngeal calcification (HP:0008754): Calcification (abnormal deposits of calcium) in the laryngeal tissues. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Abnormal ossification involving the femoral head and neck (HP:0009107). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Thick nasal alae (HP:0009928): Increase in bulk of the ala nasi. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Epiphyseal stippling of toe phalanges (HP:0010171): The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Stippling of the epiphyses of the distal phalanges of the hand (HP:0010255). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Cervical spine instability (HP:0010646): An abnormal lack of stability of the cervical spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Abnormal bronchus morphology (HP:0025426): Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Abnormal hyoid bone morphology (HP:3000052): Any structural abnormality of the hyoid bone (hyoid), a small U-shaped (horseshoe-shaped) solitary bone, situated in the midline of the neck anteriorly at the base of the mandible and posteriorly at the fourth cervical vertebra. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79345)
- Optic nerve hypoplasia (HP:0000609): Underdevelopment of the optic nerve. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79345)
- Ventricular septal defect (HP:0001629): 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79345)
- 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79345)
- 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79345)
- 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: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79345)
- Pulmonary artery stenosis (HP:0004415): An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79345)
- Optic disc hypoplasia (HP:0007766): Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79345)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79345)
- Central apnea (HP:0002871): Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Cervical kyphosis (HP:0002947): Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79345)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79345)
- Short distal phalanx of finger (HP:0009882): Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79345)
- Abnormal circulating enzyme concentration or activity (HP:0012379): Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79345)
- Mixed hearing impairment (HP:0000410): A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79345)
- Broad nasal tip (HP:0000455): Increase in width of the nasal tip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79345)
- Depressed nasal ridge (HP:0000457): Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79345)
- Abnormality of the vertebral column (HP:0000925): Any abnormality of the vertebral column. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79345)
- Short distal phalanx of toe (HP:0001857): Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79345)
- Short columella (HP:0002000): Reduced distance from the anterior border of the naris to the subnasale. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79345)
- Proportionate short stature (HP:0003508): A kind of short stature in which different regions of the body are shortened to a comparable extent. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79345)
- Punctate vertebral calcifications (HP:0008420): The presence of punctiform calcification of the bone of the vertebral bodies. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79345)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79345)
- Epiphyseal stippling (HP:0010655): The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79345)
- Hypoplasia of the anterior nasal spine (HP:0010666): Underdevelopment of the anterior nasal spine of maxilla. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79345)
- Abnormality of the costochondral junction (HP:0000919): Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- 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: Occasional (HP:0040283). (ORPHA:79345)
- Nasal congestion (HP:0001742): Reduced ability to pass air through the nasal cavity often leading to mouth breathing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Asthma (HP:0002099): Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Cervical cord compression (HP:0002341): Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Tracheal stenosis (HP:0002777). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Tracheal calcification (HP:0002787): Calcification (abnormal deposits of calcium) in the tracheal tissues. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
- Tachypnea (HP:0002789): Very rapid breathing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79345)
Not associated with this disease:
- Increased nuchal translucency (HP:0010880): Nuchal translucency is the sonographic appearance of subcutaneous accumulation of liquid in the back of the fetal neck in the first trimester of pregnancy (11-14 gestational weeks of pregnancy). Evidence: TAS. (ORPHA:79345)