Phenotypes associated with the disease ablepharon macrostomia syndrome (OMIM:200110):
- Absent eyebrow (HP:0002223): Absence of the eyebrow. Evidence: PCS. (OMIM:200110)
- Absent eyelashes (HP:0000561): Lack of eyelashes. Evidence: PCS. Frequency: 2/10. (PMID:26119818)
- Toe syndactyly (HP:0001770): Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism". Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:200110)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 9/10. (PMID:26119818)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 3/10. (PMID:26119818)
- Short upper lip (HP:0000188): Decreased width of the upper lip. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:200110)
- 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: 3/10. (PMID:26119818)
- 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: 1/10. (PMID:26119818)
- Short metacarpal (HP:0010049): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:200110)
- Hypoplasia of the zygomatic bone (HP:0010669): Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch. Evidence: PCS. Frequency: 1/10. (PMID:26119818)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 9/10. (PMID:26119818)
- Aplastic zygomatic arch (HP:0034260): Developmental defect characterized by the absence of the zygomatic arch. Evidence: PCS. Frequency: 2/10. (PMID:26119818)
- Absent lanugo (HP:0034262): Lack of development of lanugo, the fine, soft, unpigmented hair on the body of a fetus or newborn baby. Evidence: PCS. Frequency: 6/10. (PMID:26119818)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: IEA. (OMIM:200110)
- Microtia, first degree (HP:0011266): Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean. Evidence: PCS. Frequency: 10/10. (PMID:26119818)
- Hypoplastic fingernail (HP:0001804): Underdevelopment of a fingernail. Evidence: PCS. Frequency: 1/10. (PMID:26119818)
- 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: 1/10. (PMID:26119818)
- 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: 12/20. (OMIM:200110;PMID:26119818)
- Ventral hernia (HP:0002933): Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall. Evidence: PCS. (OMIM:200110)
- 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: IEA. (OMIM:200110)
- Hypoplastic nipples (HP:0002557): Underdevelopment of the nipple. Evidence: PCS. Frequency: 4/10. (PMID:26119818)
- Hypoplastic labia majora (HP:0000059): Undergrowth of the outer labia. Evidence: PCS. Frequency: 4/5. (PMID:26119818)
- Anteriorly placed anus (HP:0001545): Anterior malposition of the anus. Evidence: PCS. Frequency: 3/10. (PMID:26119818)
- Wide mouth (HP:0000154): Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). Evidence: PCS. Frequency: 9/10. (PMID:26119818)
- Abnormal nasal morphology (HP:0005105). Evidence: PCS. (OMIM:200110)
- 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: 1/5. (PMID:26119818)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 2/10. (PMID:26119818)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:200110)
- Redundant skin (HP:0001582): Loose and sagging skin often associated with loss of skin elasticity. Evidence: PCS. Frequency: 4/10. (PMID:26119818)
- Cutaneous finger syndactyly (HP:0010554): A soft tissue continuity in the A/P axis between two fingers 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 fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers. Evidence: PCS. Frequency: 4/10. (PMID:26119818)
- Ablepharon (HP:0011224): Absent eyelids. Evidence: PCS. Frequency: 6/10. (PMID:26119818)
- Microtia, third degree (HP:0011267): Presence of some auricular structures, but none of these structures conform to recognized ear components. Evidence: IEA. (OMIM:200110)
- 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: PCS. Frequency: 4/10. (PMID:26119818)
- Premature skin wrinkling (HP:0100678): The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms. Evidence: PCS. Frequency: 5/10. (PMID:26119818)
- 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: 3/10. (PMID:26119818)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: PCS. Frequency: 1/10. (PMID:26119818)
- 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:26119818)
- 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: 4/10. (PMID:26119818)
- Thin skin (HP:0000963): Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. Evidence: PCS. Frequency: 6/10. (PMID:26119818)
- Hypoplasia of eyelid (HP:0430009): Developmental hypoplasia of the eyelid. Evidence: PCS. Frequency: 3/12. (PMID:26119818)