Phenotypes associated with the disease ulnar-mammary syndrome (OMIM:181450):
- Anal stenosis (HP:0002025): Abnormal narrowing of the anal opening. Evidence: IEA. (OMIM:181450)
- Short 5th toe (HP:0011917): Underdevelopment (hypoplasia) of the fifth toe. Evidence: TAS. (OMIM:181450)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/3. (PMID:12116211)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: IEA. (OMIM:181450)
- Anterior pituitary hypoplasia (HP:0010627): Underdevelopment of the anterior pituitary gland. Evidence: TAS. (OMIM:181450)
- Hypoplastic scapulae (HP:0000882): Underdeveloped scapula. Evidence: IEA. (OMIM:181450)
- Small scrotum (HP:0000046): Apparently small scrotum for age. Evidence: PCS. Frequency: 1/3. (PMID:12116211)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: IEA. (OMIM:181450)
- Pyloric stenosis (HP:0002021): Pyloric stenosis, also known as infantile hypertrophic pyloric stenosis, is an uncommon condition in infants characterized by abnormal thickening of the pylorus muscles in the stomach leading to gastric outlet obstruction. Clinically infants are well at birth. Then, at 3 to 6 weeks of age, the infants present with projectile vomiting, potentially leading to dehydration and weight loss. Evidence: IEA. (OMIM:181450)
- Imperforate hymen (HP:0030011): A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina. Evidence: TAS. (OMIM:181450)
- Short humerus (HP:0005792): Underdevelopment of the humerus. Evidence: IEA. (OMIM:181450)
- Ectopic posterior pituitary (HP:0011755): An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis. Evidence: TAS. (OMIM:181450)
- Arrhythmia (HP:0011675): Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. Evidence: IEA. (OMIM:181450)
- Aplasia of the 5th metacarpal (HP:0010046): Absence of the fifth long bone of the hand. Evidence: PCS. Frequency: 1/3. (PMID:12116211)
- Aplasia of the 4th finger (HP:0009281): Absent 4th finger. Evidence: PCS. Frequency: 1/3. (PMID:12116211)
- Short 4th toe (HP:0008093): Underdevelopment (hypoplasia) of the fourth toe. Evidence: TAS. (OMIM:181450)
- Aplasia of the 3rd finger (HP:0009460): Absent 3rd finger. Evidence: PCS. Frequency: 1/3. (PMID:12116211)
- Subglottic stenosis (HP:0001607). Evidence: IEA. (OMIM:181450)
- 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. (OMIM:181450)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/3. (PMID:12116211)
- Bicornuate uterus (HP:0000813): The presence of a bicornuate uterus. Evidence: PCS. Frequency: 1/3. (PMID:12116211)
- Stiff elbow (HP:0025259): A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity. Evidence: PCS. Frequency: 1/3. (PMID:12116211)
- Hypoplastic nipples (HP:0002557): Underdevelopment of the nipple. Evidence: PCS. Frequency: 3/3. (PMID:12116211)
- Short clavicles (HP:0000894): Reduced length of the clavicles. Evidence: TAS. (OMIM:181450)
- Sparse axillary hair (HP:0002215): Reduced number or density of axillary hair. Evidence: IEA. (OMIM:181450)
- 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: PCS. Frequency: 2/2. (PMID:12116211)
- Aplasia of the ulna (HP:0003982): Missing ulna bone associated with congenital failure of development. Evidence: PCS. Frequency: 1/3. (PMID:12116211)
- Breast hypoplasia (HP:0003187): Underdevelopment of the breast. Evidence: PCS. Frequency: 1/1. (PMID:12116211)
- Hypoplasia of the ulna (HP:0003022): Underdevelopment of the ulna. Evidence: TAS. (OMIM:181450)
- Postaxial hand polydactyly (HP:0001162): Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). Evidence: IEA. (OMIM:181450)
- Inverted nipples (HP:0003186): The presence of nipples that instead of pointing outward are retracted inwards. Evidence: TAS. (OMIM:181450)
- Aplasia of the 3rd metacarpal (HP:0010040): Absence of the third long bone of the hand. Evidence: PCS. Frequency: 1/3. (PMID:12116211)
- Aplasia of the 4th metacarpal (HP:0010043): Absence of the fourth long bone of the hand. Evidence: PCS. Frequency: 1/3. (PMID:12116211)
- Axillary apocrine gland hypoplasia (HP:0007397): Developmental hypoplasia of the apocrine sweat glands in the region of the axilla. Evidence: IEA. (OMIM:181450)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: IEA. (OMIM:181450)
- Aplasia of the 5th finger (HP:0009238): Absent 5th (little) finger. Evidence: PCS. Frequency: 1/3. (PMID:12116211)
- Delayed puberty (HP:0000823): Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. Evidence: PCS. Frequency: 1/3. (PMID:12116211)
- Short 5th finger (HP:0009237): Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. Evidence: PCS. Frequency: 2/3. (PMID:12116211)
- Deformed radius (HP:0003977). Evidence: TAS. (OMIM:181450)
- Elbow flexion contracture (HP:0002987): An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. Evidence: PCS. Frequency: 1/3. (PMID:12116211)
- Absent radius (HP:0003974): Missing radius bone associated with congenital failure of development. Evidence: TAS. (OMIM:181450)
- 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:9207801)
- Hypoplasia of the radius (HP:0002984): Underdevelopment of the radius. Evidence: TAS. (OMIM:181450)
- Obesity (HP:0001513): Accumulation of substantial excess body fat. Evidence: IEA. (OMIM:181450)
- Shawl scrotum (HP:0000049): Superior margin of the scrotum superior to the base of the penis. Evidence: IEA. (OMIM:181450)
- Sparse lateral eyebrow (HP:0005338): Decreased density/number and/or decreased diameter of lateral eyebrow hairs. Evidence: TAS. (OMIM:181450)