Phenotypes associated with the disease Roberts-SC phocomelia syndrome (OMIM:268300, an entry in Online Mendelian Inheritance in Man):
- Opacification of the corneal stroma (HP:0007759, a Human Phenotype Ontology term): Reduced transparency of the stroma of cornea. Evidence: IEA. (OMIM:268300)
- Cranial nerve paralysis (HP:0006824, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:268300)
- Corneal opacity (HP:0007957, a Human Phenotype Ontology term): A reduction of corneal clarity. Evidence: PCS. Frequency: 1/4. (PMID:16380922)
- Talipes equinovalgus (HP:0001772, a Human Phenotype Ontology term): A deformity of foot and ankle in which the foot is bent down and outwards. Evidence: IEA. (OMIM:268300)
- Long penis (HP:0000040, a Human Phenotype Ontology term): Penile length more than 2 SD above the mean for age. Evidence: IEA. (OMIM:268300)
- Horseshoe kidney (HP:0000085, a Human Phenotype Ontology term): 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:268300)
- Finger aplasia (HP:0009380, a Human Phenotype Ontology term): A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers). Evidence: IEA. (OMIM:268300)
- Cataract (HP:0000518, a Human Phenotype Ontology term): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: IEA. (OMIM:268300)
- Cafe-au-lait spot (HP:0000957, a Human Phenotype Ontology term): Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. Evidence: TAS. (OMIM:268300)
- Stillbirth (HP:0003826, a Human Phenotype Ontology term): Death of the fetus in utero after at least 22 weeks of gestation. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:268300)
- Hypertelorism (HP:0000316, a Human Phenotype Ontology term): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 4/6. (PMID:16380922)
- Cavernous hemangioma of the face (HP:0007486, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 5/8. (PMID:16380922)
- Radial deviation of finger (HP:0009466, a Human Phenotype Ontology term): Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. Evidence: IEA. (OMIM:268300)
- Hydrocephalus (HP:0000238, a Human Phenotype Ontology term): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: IEA. (OMIM:268300)
- Postnatal growth retardation (HP:0008897, a Human Phenotype Ontology term): Slow or limited growth after birth. Evidence: TAS. (OMIM:268300)
- Patent ductus arteriosus (HP:0001643, a Human Phenotype Ontology term): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: IEA. (OMIM:268300)
- Polycystic kidney dysplasia (HP:0000113, a Human Phenotype Ontology term): The presence of multiple cysts in both kidneys. Evidence: IEA. (OMIM:268300)
- Cystic hygroma (HP:0000476, a Human Phenotype Ontology term): A cystic lymphatic lesion of the neck. Evidence: TAS. (OMIM:268300)
- Posteriorly rotated ears (HP:0000358, a Human Phenotype Ontology term): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: IEA. (OMIM:268300)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: IEA. (OMIM:268300)
- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 5/6. (PMID:15821733)
- Downslanted palpebral fissures (HP:0000494, a Human Phenotype Ontology term): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. (OMIM:268300)
- Cleft palate (HP:0000175, a Human Phenotype Ontology term): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: PCS. Frequency: 1/7. (PMID:16380922)
- Knee flexion contracture (HP:0006380, a Human Phenotype Ontology term): A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively. Evidence: PCS. (PMID:16380922)
- Enlarged labia minora (HP:0008683, a Human Phenotype Ontology term): Increase in size of the folds of skin between the outer labia. Evidence: IEA. (OMIM:268300)
- Microphthalmia (HP:0000568, a Human Phenotype Ontology term): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: IEA. (OMIM:268300)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:15821733)
- Absent thumb (HP:0009777, a Human Phenotype Ontology term): Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues. Evidence: PCS. Frequency: 4/7. (PMID:16380922)
- Ankle flexion contracture (HP:0006466, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:268300)
- Narrow naris (HP:0009933, a Human Phenotype Ontology term): Slender, slit-like aperture of the nostril. Evidence: TAS. (OMIM:268300)
- Proptosis (HP:0000520, a Human Phenotype Ontology term): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: PCS. Frequency: 5/8. (PMID:16380922)
- Hypospadias (HP:0000047, a Human Phenotype Ontology term): 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:268300)
- Elbow flexion contracture (HP:0002987, a Human Phenotype Ontology term): 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. (PMID:16380922)
- Severe intrauterine growth retardation (HP:0008846, a Human Phenotype Ontology term): Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age. Evidence: TAS. (OMIM:268300)
- Low-set ears (HP:0000369, a Human Phenotype Ontology term): 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: IEA. (OMIM:268300)
- Cleft upper lip (HP:0000204, a Human Phenotype Ontology term): A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. Evidence: PCS. Frequency: 1/8. (PMID:16380922)
- Brachycephaly (HP:0000248, a Human Phenotype Ontology term): 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:268300)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 8/8. (PMID:16380922)
- Absent earlobe (HP:0000387, a Human Phenotype Ontology term): Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura. Evidence: TAS. (OMIM:268300)
- Brachydactyly (HP:0001156, a Human Phenotype Ontology term): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: TAS. (OMIM:268300)
- Short humerus (HP:0005792, a Human Phenotype Ontology term): Underdevelopment of the humerus. Evidence: PCS. Frequency: 4/8. (PMID:16380922)
- Sparse hair (HP:0008070, a Human Phenotype Ontology term): Reduced density of hairs. Evidence: IEA. (OMIM:268300)
- Ventricular septal defect (HP:0001629, a Human Phenotype Ontology term): 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: IEA. (OMIM:268300)
- Bicornuate uterus (HP:0000813, a Human Phenotype Ontology term): The presence of a bicornuate uterus. Evidence: IEA. (OMIM:268300)
- High palate (HP:0000218, a Human Phenotype Ontology term): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: TAS. (OMIM:268300)
- Clinodactyly (HP:0030084, a Human Phenotype Ontology term): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: TAS. (OMIM:268300)
- Accessory spleen (HP:0001747, a Human Phenotype Ontology term): An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance. Evidence: IEA. (OMIM:268300)
- Abnormal pinna morphology (HP:0000377, a Human Phenotype Ontology term): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: TAS. (OMIM:268300)
- Tetraphocomelia (HP:0030721, a Human Phenotype Ontology term): Phocomelia involving all four extremities. Evidence: TAS. (OMIM:268300)
- Polyhydramnios (HP:0001561, a Human Phenotype Ontology term): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: IEA. (OMIM:268300)
- Craniosynostosis (HP:0001363, a Human Phenotype Ontology term): 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: IEA. (OMIM:268300)
- Wide nasal bridge (HP:0000431, a Human Phenotype Ontology term): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: IEA. (OMIM:268300)
- Phocomelia (HP:0009829, a Human Phenotype Ontology term): Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the entire limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). Evidence: PCS. Frequency: 8/8. (PMID:16380922)
- Underdeveloped nasal alae (HP:0000430, a Human Phenotype Ontology term): Thinned, deficient, or excessively arched ala nasi. Evidence: PCS. Frequency: 6/6. (PMID:16380922)
- Aplasia of the ulna (HP:0003982, a Human Phenotype Ontology term): Missing ulna bone associated with congenital failure of development. Evidence: PCS. Frequency: 3/8. (PMID:16380922)
- Hypoplasia of the ulna (HP:0003022, a Human Phenotype Ontology term): Underdevelopment of the ulna. Evidence: PCS. Frequency: 4/8. (PMID:16380922)
- Blue sclerae (HP:0000592, a Human Phenotype Ontology term): An abnormal bluish coloration of the sclera. Evidence: IEA. (OMIM:268300)
- Short neck (HP:0000470, a Human Phenotype Ontology term): Diminished length of the neck. Evidence: IEA. (OMIM:268300)
- Malar flattening (HP:0000272, a Human Phenotype Ontology term): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: TAS. (OMIM:268300)
- Biliary tract abnormality (HP:0001080, a Human Phenotype Ontology term): An abnormality of the biliary tree. Evidence: IEA. (OMIM:268300)
- Frontoethmoidal encephalocele (HP:0007330, a Human Phenotype Ontology term): A type of anterior encephalocele in which there is a protrusion of the contents of the skull through a breach at the point where the frontal and ethmoidal bones meet. Frontoethmoidal encephalocele can be divided further into three distinct categories: nasofrontal, nasoethmoidal, and nasoorbital. Evidence: IEA. (OMIM:268300)
- Midface capillary hemangioma (HP:0007452, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:268300)
- Wrist flexion contracture (HP:0001239, a Human Phenotype Ontology term): A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist. Evidence: IEA. (OMIM:268300)
- Hyperplasia of the maxilla (HP:0430028, a Human Phenotype Ontology term): Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla. Evidence: PCS. Frequency: 5/6. (PMID:16380922)
- Abnormal metacarpal morphology (HP:0005916, a Human Phenotype Ontology term): Any abnormal shape or structure of the metacarpal bones. Evidence: TAS. (OMIM:268300)
- Premature separation of centromeric heterochromatin (HP:0003616, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:268300)
- Eyelid coloboma (HP:0000625, a Human Phenotype Ontology term): A short discontinuity of the margin of the lower or upper eyelid. Evidence: TAS. (OMIM:268300)
- Clitoral hypertrophy (HP:0008665, a Human Phenotype Ontology term): Hypertrophy of the clitoris. Evidence: IEA. (OMIM:268300)
- Syndactyly (HP:0001159, a Human Phenotype Ontology term): Webbing or fusion of the fingers or 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 fingers or toes in a proximo-distal axis are referred to as "symphalangism". Evidence: IEA. (OMIM:268300)
- Shallow orbits (HP:0000586, a Human Phenotype Ontology term): Reduced depth of the orbits associated with prominent-appearing ocular globes. Evidence: IEA. (OMIM:268300)
- Atrial septal defect (HP:0001631, a Human Phenotype Ontology term): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: IEA. (OMIM:268300)
- Micrognathia (HP:0000347, a Human Phenotype Ontology term): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 3/7. (PMID:16380922)
- Cryptorchidism (HP:0000028, a Human Phenotype Ontology term): 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:268300)
- Coloboma (HP:0000589, a Human Phenotype Ontology term): A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. Evidence: IEA. (OMIM:268300)
- Absent radius (HP:0003974, a Human Phenotype Ontology term): Missing radius bone associated with congenital failure of development. Evidence: PCS. Frequency: 6/7. (PMID:16380922)