Phenotypes associated with the disease Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (OMIM:201750):
- Large hands (HP:0001176). Evidence: PCS. Frequency: 1/3. (PMID:14758361)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: IEA. (OMIM:201750)
- Small scrotum (HP:0000046): Apparently small scrotum for age. Evidence: IEA. (OMIM:201750)
- Bronchomalacia (HP:0002780): Weakness or softness of the cartilage in the walls of the bronchial tubes. Evidence: IEA. (OMIM:201750)
- Increased circulating ACTH level (HP:0003154): An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. Evidence: PCS. Frequency: 1/3. (PMID:14758361)
- Ulnar bowing (HP:0003031): Bending of the diaphysis (shaft) of the ulna. Evidence: IEA. (OMIM:201750)
- Chordee (HP:0000041): A congenital anomaly of the penis characterized by ventral (i.e., downward), lateral, or ventrolateral curvature of the shaft and glans penis of more than 30 degrees. Evidence: IEA. (OMIM:201750)
- Decreased circulating renin concentration (HP:0003351): An decreased level of renin in the blood. Evidence: PCS. Frequency: 1/3. (PMID:14758361)
- Horseshoe kidney (HP:0000085): A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. Evidence: IEA. (OMIM:201750)
- Caesarean section (HP:0011410): Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy). Evidence: PCS. Frequency: 1/3. (PMID:14758361)
- Hemivertebrae (HP:0002937): Absence of one half of the vertebral body. Evidence: IEA. (OMIM:201750)
- 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: 1/3. (PMID:14758361)
- Broad foot (HP:0001769): A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length. Evidence: PCS. Frequency: 1/3. (PMID:14758361)
- Carpal synostosis (HP:0009702): Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform). Evidence: IEA. (OMIM:201750)
- Laryngomalacia (HP:0001601): Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. Evidence: IEA. (OMIM:201750)
- Simple ear (HP:0020206): The pinna has fewer folds and grooves than usual. Evidence: TAS. (OMIM:201750)
- Radioulnar synostosis (HP:0002974): An abnormal osseous union (fusion) between the radius and the ulna. Evidence: IEA. (OMIM:201750)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: IEA. (OMIM:201750)
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: IEA. (OMIM:201750)
- 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: IEA. (OMIM:201750)
- Hypoplasia of the uterus (HP:0000013): Underdevelopment of the uterus. Evidence: PCS. Frequency: 1/3. (PMID:14758361)
- Vesicovaginal fistula (HP:0001586): The presence of a fistula connecting the urinary bladder to the vagina. Evidence: IEA. (OMIM:201750)
- Choanal stenosis (HP:0000452): Abnormal narrowing of the choana (the posterior nasal aperture). Evidence: PCS. Frequency: 1/3. (PMID:14758361)
- Hyperkalemia (HP:0002153): The concentration of potassium(1+) in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/3. (PMID:14758361)
- Humeroradial synostosis (HP:0003041): An abnormal osseous union (fusion) between the radius and the humerus. Evidence: PCS. Frequency: 1/3. (PMID:14758361)
- 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: 1/3. (PMID:14758361)
- Temporal bossing (HP:0032569): Prominence (bulging) in the temple region, which is the part of the skull where the frontal, parietal, temporal, and sphenoid bones join on the side of the head. Evidence: IEA. (OMIM:201750)
- Decreased circulating androstenedione concentration (HP:0033812): Reduced concentration of androstenedione in the blood circulation. Evidence: PCS. Frequency: 1/3. (PMID:14758361)
- Camptodactyly (HP:0012385): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. Evidence: TAS. (OMIM:201750)
- Decreased circulating cortisol level (HP:0008163): Abnormally reduced concentration of cortisol in the blood. Evidence: PCS. Frequency: 1/3. (PMID:14758361)
- Chiari malformation (HP:0002308): Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. Evidence: IEA. (OMIM:201750)
- Hyponatremia (HP:0002902): The concentration of sodium in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/3. (PMID:14758361)
- 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:14758361)
- Adrenal insufficiency (HP:0000846): Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands. Evidence: PCS. Frequency: 1/3. (PMID:14758361)
- 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: TAS. (OMIM:201750)
- Tarsal synostosis (HP:0008368): Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones). Evidence: IEA. (OMIM:201750)
- Bifid scrotum (HP:0000048): Midline indentation or cleft of the scrotum. Evidence: IEA. (OMIM:201750)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: IEA. (OMIM:201750)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: IEA. (OMIM:201750)
- Brachycephaly (HP:0000248): An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. Evidence: IEA. (OMIM:201750)
- 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: 1/3. (PMID:14758361)
- 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: 1/3. (PMID:14758361)
- Labial hypoplasia (HP:0000066). Evidence: IEA. (OMIM:201750)
- 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: TAS. Frequency: Occasional (HP:0040283). (OMIM:201750)
- 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: 20/20. (PMID:14758361;OMIM:201750)
- Fused labia majora (HP:0025486): The outer labia are sealed together. Evidence: PCS. Frequency: 1/3. (PMID:14758361)
- Maternal virilization in pregnancy (HP:0008072): Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum. Evidence: IEA. (OMIM:201750)
- Low maternal circulating estriol concentration (HP:0008073): An abnormally low concentration of serum conjugated estriol as compared to normal values for gestational-age. Evidence: IEA. (OMIM:201750)
- Decreased circulating progesterone (HP:0008233): An reduced concentration of progesterone in the blood. Evidence: TAS. (OMIM:201750)
- Hypoglycemia (HP:0001943): A decreased concentration of glucose in the blood. Evidence: PCS. Frequency: 1/3. (PMID:14758361)
- Elevated serum 11-deoxycortisol (HP:0025436): Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone. Evidence: PCS. Frequency: 1/3. (PMID:14758361)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: PCS. Frequency: 1/3. (PMID:14758361)
- Breech presentation (HP:0001623): A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first. Evidence: PCS. Frequency: 1/3. (PMID:14758361)
- Cloverleaf skull (HP:0002676): Trilobar skull configuration when viewed from the front or behind. Evidence: IEA. (OMIM:201750)
- Ovarian cyst (HP:0000138): The presence of one or more cysts of the ovary. Evidence: PCS. Frequency: 1/3. (PMID:14758361)
- Anteriorly placed anus (HP:0001545): Anterior malposition of the anus. Evidence: TAS. (OMIM:201750)
- Arachnodactyly (HP:0001166): Abnormally long and slender fingers (spider fingers). Evidence: PCS. Frequency: 2/3. (PMID:14758361)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: IEA. (OMIM:201750)
- Craniosynostosis (HP:0001363): Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. Evidence: PCS. Frequency: 2/3. (PMID:14758361)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 11/13. (PMID:14758361;OMIM:201750)
- Malar flattening (HP:0000272): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: IEA. (OMIM:201750)
- Elevated circulating 17-hydroxyprogesterone concentration (HP:0031213): An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase. Evidence: PCS. Frequency: 1/1. (PMID:14758361)
- Decreased circulating dehydroepiandrosterone concentration (HP:0031214). Evidence: PCS. Frequency: 1/3. (PMID:14758361)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: IEA. (OMIM:201750)
- Increased circulating progesterone (HP:0031216): An elevated concentration of progesterone in the blood. Evidence: PCS. Frequency: 1/3. (PMID:14758361)
- Rocker bottom foot (HP:0001838): The presence of both a prominent heel and a convex contour of the sole. Evidence: PCS. Frequency: 1/3. (PMID:14758361)
- Joint contracture of the hand (HP:0009473): Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. Evidence: IEA. (OMIM:201750)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: IEA. (OMIM:201750)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 1/3. (PMID:14758361)
- Clitoral hypertrophy (HP:0008665): Hypertrophy of the clitoris. Evidence: PCS. Frequency: 1/3. (PMID:14758361)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: IEA. (OMIM:201750)
- Polycystic ovaries (HP:0000147). Evidence: IEA. (OMIM:201750)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: IEA. (OMIM:201750)
- Primary amenorrhea (HP:0000786). Evidence: PCS. Frequency: 1/3. (PMID:14758361)