Phenotypes associated with the disease auriculocondylar syndrome 2B (OMIM:620458):
- Narrow forehead (HP:0000341): Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). Evidence: PCS. Frequency: 1/1. (PMID:27007857)
- Preauricular skin tag (HP:0000384): A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear). Evidence: PCS. Frequency: 0/2. (PMID:23315542;PMID:27007857)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 5/5. (PMID:35170830;PMID:23315542;PMID:27007857;PMID:23913798)
- Long penis (HP:0000040): Penile length more than 2 SD above the mean for age. Evidence: PCS. Frequency: 2/2. (PMID:23913798)
- 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: 1/1. (PMID:27007857)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 1/1. (PMID:35170830)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 1/1. (PMID:27007857)
- Darwin tubercle of helix (HP:0011261): Small expansion of the helical fold at the junction of the superior and descending portions of the helix. Evidence: PCS. Frequency: 1/1. (PMID:27007857)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/1. (PMID:27007857)
- Chronic constipation (HP:0012450): Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation. Evidence: PCS. Frequency: 1/1. (PMID:23913798)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: PCS. Frequency: 1/1. (PMID:27007857)
- Opisthotonus (HP:0002179): Opisthotonus is defined as a dramatic abnormal posture due to spastic contraction of the extensor muscles of the neck, trunk, and lower extremities that produces a severe backward arching from neck to heel. In most cases, the trunk is elevated off the ground by a few inches. It is usually sudden in onset and can be sustained or repetitive. It can be considered a variant of decerebrate posturing involving a hyperextension of the neck, back, and limbs. Evidence: PCS. Frequency: 1/1. (PMID:27007857)
- Mandibular condyle hypoplasia (HP:0007628). Evidence: PCS. Frequency: 1/1. (PMID:27007857)
- Hypoplasia of the corpus callosum (HP:0002079): Underdevelopment of the corpus callosum. Evidence: PCS. Frequency: 1/1. (PMID:27007857)
- Limbal dermoid (HP:0001140): A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid). Evidence: PCS. Frequency: 0/1. (PMID:23315542)
- Full cheeks (HP:0000293): Increased prominence or roundness of soft tissues between zygomata and mandible. Evidence: PCS. Frequency: 3/3. (PMID:27007857;PMID:23913798)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 2/3. (PMID:35170830;PMID:23913798)
- Postauricular skin tag (HP:0004451): A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear). Evidence: PCS. Frequency: 2/2. (PMID:23315542;PMID:27007857)
- Question mark ear (HP:0030022): Cleft between the helix and the lobe. Evidence: PCS. Frequency: 5/5. (PMID:35170830;PMID:23315542;PMID:27007857;PMID:23913798)
- Central sleep apnea (HP:0010536): Sleep apnea results from a temporary loss of the central drive to the muscles responsible for breathing. Evidence: PCS. Frequency: 1/1. (PMID:27007857)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: PCS. Frequency: 1/1. (PMID:27007857)
- Autistic behavior (HP:0000729): Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. Evidence: PCS. Frequency: 1/1. (PMID:23913798)
- 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:23913798)
- Omphalocele (HP:0001539): A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. Evidence: PCS. Frequency: 1/3. (PMID:23315542;PMID:23913798)
- Abnormality of the cervical spine (HP:0003319): Any abnormality of the cervical vertebral column. Evidence: PCS. Frequency: 0/1. (PMID:23315542)
- Synophrys (HP:0000664): Meeting of the medial eyebrows in the midline. Evidence: PCS. Frequency: 1/1. (PMID:27007857)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 4/4. (PMID:35170830;PMID:23315542;PMID:23913798)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: PCS. Frequency: 1/2. (PMID:23315542;PMID:23913798)
- Facial asymmetry (HP:0000324): An abnormal difference between the left and right sides of the face. Evidence: PCS. Frequency: 0/1. (PMID:23315542)