Phenotypes associated with the disease Fraser syndrome 2 (OMIM:617666):
- Rectal atresia (HP:0025023): A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum. Evidence: PCS. Frequency: 1/4. (PMID:15838507)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 4/4. (PMID:15838507)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: PCS. Frequency: 1/4. (PMID:15838507)
- Renal hypoplasia (HP:0000089): Hypoplasia of the kidney. Evidence: IEA. (OMIM:617666)
- Unilateral renal agenesis (HP:0000122): A unilateral form of agenesis of the kidney. Evidence: PCS. Frequency: 1/4. (PMID:15838507)
- Ambiguous genitalia (HP:0000062): A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. Evidence: PCS. Frequency: 3/3. (PMID:15838507)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: PCS. Frequency: 1/4. (PMID:15838507)
- Cutaneous syndactyly (HP:0012725): A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits. Evidence: PCS. Frequency: 3/4. (PMID:15838507)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: IEA. (OMIM:617666)
- Short thorax (HP:0010306): Reduced inferior to superior extent of the thorax. Evidence: PCS. Frequency: 1/4. (PMID:15838507)
- Hypoplasia of the thymus (HP:0000778): Underdevelopment of the thymus. Evidence: PCS. Frequency: 1/4. (PMID:15838507)
- Respiratory failure (HP:0002878): A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. Evidence: PCS. Frequency: 1/4. (PMID:15838507)
- Cryptophthalmos (HP:0001126): Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity. Evidence: PCS. Frequency: 3/4. (PMID:15838507)
- Atresia of the external auditory canal (HP:0000413): Absence or failure to form of the external auditory canal. Evidence: PCS. Frequency: 1/4. (PMID:15838507)
- Hypoplasia of the epiglottis (HP:0005349): Hypoplasia of the epiglottis. Evidence: PCS. Frequency: 1/4. (PMID:15838507)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: PCS. Frequency: 2/4. (PMID:15838507)
- Bilateral renal agenesis (HP:0010958): A bilateral form of agenesis of the kidney. Evidence: PCS. Frequency: 2/4. (PMID:15838507)
- Underdeveloped nasal alae (HP:0000430): Thinned, deficient, or excessively arched ala nasi. Evidence: PCS. Frequency: 1/4. (PMID:15838507)
- Low anterior hairline (HP:0000294): Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. Evidence: PCS. Frequency: 1/4. (PMID:15838507)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: PCS. Frequency: 1/4. (PMID:15838507)
- Aplasia of the bladder (HP:0010477): Aplasia (absence) of the urinary bladder. Evidence: PCS. Frequency: 3/4. (PMID:15838507)
- Ureteral agenesis (HP:0012300): Failure of the ureter to undergo development. Evidence: PCS. Frequency: 1/4. (PMID:15838507)
- 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:15838507)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: PCS. Frequency: 1/4. (PMID:15838507)
- Intestinal malrotation (HP:0002566): An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. Evidence: PCS. Frequency: 1/4. (PMID:15838507)
- 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: 1/4. (PMID:15838507)
- Renal agenesis (HP:0000104): Agenesis, that is, failure of the kidney to develop during embryogenesis and development. Evidence: PCS. Frequency: 1/4. (PMID:15838507)
- Wide nose (HP:0000445): Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae. Evidence: PCS. Frequency: 1/4. (PMID:15838507)