Phenotypes associated with the disease tetraamelia syndrome 1 (OMIM:273395):
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: PCS. Frequency: 1/3. (PMID:14872406)
- Pulmonary hypoplasia (HP:0002089). Evidence: IEA. (OMIM:273395)
- Tetraamelia (HP:0003057): Amelia of all four limbs. Evidence: PCS. Frequency: 4/4. (PMID:14872406)
- Urethral atresia (HP:0000068): Congenital anomaly characterized by closure or failure to develop an opening in the urethra. Evidence: PCS. Frequency: 1/3. (PMID:14872406)
- Abnormal scapula morphology (HP:0000782): Any abnormality of the scapula, also known as the shoulder blade. Evidence: PCS. Frequency: 0/3. (PMID:14872406)
- Single umbilical artery (HP:0001195): Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord. Evidence: PCS. Frequency: 1/3. (PMID:14872406)
- Absent external genitalia (HP:0000042): Lack of external genitalia in a male or female individual. Evidence: PCS. Frequency: 1/1. (PMID:14872406)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 1/3. (PMID:14872406)
- Fetal onset (HP:0011461): Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). Evidence: PCS. Frequency: 4/4. (PMID:14872406)
- Asplenia (HP:0001746): Absence (aplasia) of the spleen. Evidence: PCS. Frequency: 1/3. (PMID:14872406)
- Hypoplasia of the fallopian tube (HP:0008697): Developmental hypoplasia of the fallopian tube. Evidence: PCS. Frequency: 1/2. (PMID:14872406)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: IEA. (OMIM:273395)
- Gastroschisis (HP:0001543): A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus. Evidence: PCS. Frequency: 1/3. (PMID:14872406)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: PCS. Frequency: 1/3. (PMID:14872406)
- 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: 2/3. (PMID:14872406)
- 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: 1/3. (PMID:14872406)
- Hypoplastic pelvis (HP:0008839): Underdevelopment of the bony pelvis. Evidence: PCS. Frequency: 2/3. (PMID:14872406)
- Adrenal gland agenesis (HP:0011743): Absent development of the adrenal gland. Evidence: PCS. Frequency: 1/3. (PMID:14872406)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:14872406)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: PCS. Frequency: 1/3. (PMID:14872406)
- Abnormal clavicle morphology (HP:0000889): Any abnormality of the clavicles (collar bones). Evidence: PCS. Frequency: 0/3. (PMID:14872406)
- Single naris (HP:0009932): The presence of only a single nostril. Evidence: PCS. Frequency: 1/3. (PMID:14872406)
- 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: 2/3. (PMID:14872406)
- 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: IEA. (OMIM:273395)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: IEA. (OMIM:273395)
- Peripheral pulmonary vessel aplasia (HP:0005316). Evidence: IEA. (OMIM:273395)
- Renal agenesis (HP:0000104): Agenesis, that is, failure of the kidney to develop during embryogenesis and development. Evidence: PCS. Frequency: 2/3. (PMID:14872406)
- Vaginal atresia (HP:0000148): Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion. Evidence: PCS. Frequency: 1/2. (PMID:14872406)