- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: PCS. Frequency: 1/2. (PMID:15952209)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: PCS. Frequency: 4/21. (PMID:35344616)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 3/22. (PMID:35344616)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 22/22. Onset: Infantile onset (HP:0003593). (PMID:35344616)
- Nevus flammeus (HP:0001052): A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin. Evidence: IEA. (OMIM:268310)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: PCS. Frequency: 22/22. (PMID:35344616)
- Mesomelic arm shortening (HP:0005011): Shortening of the middle parts of the arm in relation to the upper and terminal segments. Evidence: PCS. Frequency: 1/2. (PMID:15952209)
- Absent uvula (HP:0010292): Lack of the uvula. Evidence: IEA. (OMIM:268310)
- Broad hallux (HP:0010055): Visible increase in width of the hallux without an increase in the dorso-ventral dimension. Evidence: PCS. Frequency: 8/17. (PMID:35344616)
- Bifid tongue (HP:0010297): Tongue with a median apical indentation or fork. Evidence: PCS. Frequency: 17/22. (PMID:35344616)
- Hemivertebrae (HP:0002937): Absence of one half of the vertebral body. Evidence: PCS. Frequency: 21/24. (PMID:35344616;PMID:15952209)
- Radial deviation of finger (HP:0009466): 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:268310)
- Long palpebral fissure (HP:0000637): Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures. Evidence: PCS. Frequency: 15/22. (PMID:35344616)
- Bilateral ulnar hypoplasia (HP:0005648): Underdevelopment of the ulna on both sides. Evidence: PCS. Frequency: 1/2. (PMID:15952209)
- Posteriorly rotated ears (HP:0000358): 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:268310)
- Melanocytic nevus (HP:0000995): A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger. Evidence: PCS. Frequency: 4/20. (PMID:35344616)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: PCS. Frequency: 7/22. (PMID:35344616)
- Short digit (HP:0011927): One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. Evidence: TAS. (OMIM:268310)
- 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: 21/22. (PMID:35344616)
- Dislocated radial head (HP:0003083): A dislocation of the head of the radius from its socket in the elbow joint. Evidence: PCS. Frequency: 1/2. (PMID:15952209)
- Proximal fifth finger symphalangism (HP:0009177): Fusion of the proximal and middle phalanges of the 5th finger. Evidence: PCS. Frequency: 2/2. (PMID:15952209)
- Vertebral fusion (HP:0002948): A developmental defect leading to the union of two adjacent vertebrae. Evidence: TAS. (OMIM:268310)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: PCS. Frequency: 3/19. (PMID:35344616)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: PCS. Frequency: 10/21. (PMID:35344616)
- Missing ribs (HP:0000921): A developmental anomaly with absence of one or more ribs. Evidence: IEA. (OMIM:268310)
- 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:10932186)
- Thoracolumbar scoliosis (HP:0002944). Evidence: TAS. (OMIM:268310)
- Long eyelashes (HP:0000527): Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective). Evidence: PCS. Frequency: 16/22. (PMID:35344616)
- Proptosis (HP:0000520): An eye that is protruding anterior to the plane of the face to a greater extent than is typical. Evidence: PCS. Frequency: 14/22. (PMID:35344616)
- 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: 14/21. (PMID:35344616)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: PCS. Frequency: 1/2. (PMID:15952209)
- Bifid distal phalanx of toe (HP:0001853). Evidence: IEA. (OMIM:268310)
- Upslanted palpebral fissure (HP:0000582): The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. Evidence: PCS. Frequency: 11/22. (PMID:35344616)
- Small nail (HP:0001792): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: PCS. Frequency: 2/2. (PMID:15952209)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/2. (PMID:15952209)
- Narrow palate (HP:0000189): Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). Evidence: PCS. Frequency: 7/17. (PMID:35344616)
- Long philtrum (HP:0000343): Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. Evidence: PCS. Frequency: 11/22. (PMID:35344616)
- Brachydactyly (HP:0001156): 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: PCS. Frequency: 24/24. (PMID:35344616;PMID:15952209)
- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: PCS. Frequency: 22/24. (OMIM:268310;PMID:35344616)
- Hypoplastic labia minora (HP:0000064). Evidence: PCS. Frequency: 4/11. (PMID:35344616)
- Clitoral hypoplasia (HP:0000060): Developmental hypoplasia of the clitoris. Evidence: IEA. (OMIM:268310)
- Right ventricular outlet tract obstruction (HP:0001705): An obstruction to the forward flow of blood in the outflow tract of the right ventricle. Evidence: IEA. (OMIM:268310)
- Thin upper lip vermilion (HP:0000219): Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). Evidence: PCS. Frequency: 13/22. (PMID:35344616)
- Clinodactyly (HP:0030084): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: PCS. Frequency: 17/21. (PMID:35344616)
- Hypoplastic labia majora (HP:0000059): Undergrowth of the outer labia. Evidence: PCS. Frequency: 2/11. (PMID:35344616)
- Gingival overgrowth (HP:0000212): Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. Evidence: PCS. Frequency: 17/22. (PMID:35344616)
- Delayed eruption of permanent teeth (HP:0000696): Delayed tooth eruption affecting the secondary dentition. Evidence: TAS. (OMIM:268310)
- Single interphalangeal crease of fifth finger (HP:0006216): Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger. Evidence: PCS. Frequency: 1/2. (PMID:15952209)
- Short palm (HP:0004279): Short palm. Evidence: PCS. Frequency: 19/22. (PMID:35344616)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 16/24. (PMID:35344616;PMID:15952209)
- Renal duplication (HP:0000075): A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters. Evidence: IEA. (OMIM:268310)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: PCS. Frequency: 14/22. (PMID:35344616)
- Rib fusion (HP:0000902): Complete or partial merging of adjacent ribs. Evidence: PCS. Frequency: 20/24. (PMID:35344616;PMID:15952209)
- Broad toe (HP:0001837): Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension. Evidence: IEA. (OMIM:268310)
- Ptosis (HP:0000508): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: PCS. Frequency: 3/22. (PMID:35344616)
- Thoracic hemivertebrae (HP:0008467): Absence of one half of the vertebral body in the thoracic spine. Evidence: IEA. (OMIM:268310)
- Aplasia/Hypoplasia involving the metacarpal bones (HP:0005914): Aplasia or Hypoplasia affecting the metacarpal bones. Evidence: TAS. (OMIM:268310)
- Syndactyly (HP:0001159): 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: PCS. Frequency: 6/21. (PMID:35344616)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Frequency: 1/2. (PMID:15952209)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 15/22. (PMID:35344616)
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: PCS. Frequency: 7/22. (PMID:35344616)
- Tented upper lip vermilion (HP:0010804): Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base. Evidence: PCS. Frequency: 1/2. (PMID:15952209)
- Limited pronation/supination of forearm (HP:0006394): A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation). Evidence: PCS. Frequency: 13/20. (PMID:35344616)
- Prominent forehead (HP:0011220): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: PCS. Frequency: 23/24. (PMID:35344616;PMID:15952209)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: PCS. Frequency: 5/19. (PMID:35344616)
- 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: 23/24. (PMID:35344616;PMID:15952209)
- Dental crowding (HP:0000678): Changes in alignment of teeth in the dental arch. Evidence: IEA. (OMIM:268310)
- Macroglossia (HP:0000158): Increased length and width of the tongue. Evidence: IEA. (OMIM:268310)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: PCS. Frequency: 15/22. (PMID:35344616)
- Intellectual disability (HP:0001249): 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:268310)
- Tooth agenesis (HP:0009804): The absence of one or more teeth from the normal series by a failure to develop. Evidence: PCS. Frequency: 3/10. (PMID:35344616)
- 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: 12/12. (PMID:35344616;PMID:15952209)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: IEA. (OMIM:268310)
- Joint hypermobility (HP:0001382): The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes. Evidence: PCS. Frequency: 1/2. (PMID:15952209)
- Microglossia (HP:0000171): Decreased length and width of the tongue. Evidence: PCS. Frequency: 6/17. (PMID:35344616)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: IEA. (OMIM:268310)
- 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: 4/21. (PMID:35344616)
- Umbilical hernia (HP:0001537): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: IEA. (OMIM:268310)
- Triangular mouth (HP:0000207): The presence of a triangular form of the mouth. Evidence: PCS. Frequency: 17/24. (PMID:35344616;PMID:15952209)
- Radial bowing (HP:0002986): A bending or abnormal curvature of the radius. Evidence: PCS. Frequency: 1/2. (PMID:15952209)
- Orofacial cleft (HP:0000202): The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. Evidence: PCS. Frequency: 5/22. (PMID:35344616)
- Short philtrum (HP:0000322): Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. Evidence: PCS. Frequency: 6/22. (PMID:35344616)
- Sacral dimple (HP:0000960): A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft. Evidence: PCS. Frequency: 1/19. (PMID:35344616)
- 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: PCS. Frequency: 2/10. (PMID:35344616)
- Hypoplasia of the radius (HP:0002984): Underdevelopment of the radius. Evidence: PCS. Frequency: 1/2. (PMID:15952209)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 3/19. (PMID:35344616)
- Wide anterior fontanel (HP:0000260): Enlargement of the anterior fontanelle with respect to age-dependent norms. Evidence: IEA. (OMIM:268310)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: PCS. Frequency: 8/21. (PMID:35344616)
- Short middle phalanx of the 5th finger (HP:0004220): Hypoplastic/small middle phalanx of the fifth finger. Evidence: IEA. (OMIM:268310)
- Flat face (HP:0012368): Absence of concavity or convexity of the face when viewed in profile. Evidence: TAS. (OMIM:268310)
- Duplication of the distal phalanx of hand (HP:0009883): This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. Evidence: IEA. (OMIM:268310)
- Short distal phalanx of finger (HP:0009882): Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. Evidence: PCS. Frequency: 1/2. (PMID:15952209)
- Microtia (HP:0008551): Underdevelopment of the external ear. Evidence: PCS. Frequency: 2/21. (PMID:35344616)
- Abnormal heart morphology (HP:0001627): Any structural anomaly of the heart. Evidence: PCS. Frequency: 4/22. (PMID:35344616)
- Downturned corners of mouth (HP:0002714): A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. Evidence: PCS. Frequency: 17/22. (PMID:35344616)
- 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: IEA. (OMIM:268310)
- 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: 1/2. (PMID:15952209)
- Mesomelia (HP:0003027): Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. Evidence: PCS. Frequency: 22/22. (PMID:35344616)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 21/22. (PMID:35344616)
- Delayed cranial suture closure (HP:0000270): Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age. Evidence: TAS. (OMIM:268310)
- 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:268310)
- Hypoplastic sacrum (HP:0004590): A developmental defect characterized by undergrowth of the sacrum, which is a large, triangular bone at the base of the spine that forms by the fusing of the sacral vertebrae (S1-S5). Evidence: TAS. (OMIM:268310)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 15/22. (PMID:35344616)
- Broad thumb (HP:0011304): Increased thumb width without increased dorso-ventral dimension. Evidence: PCS. Frequency: 14/24. (PMID:35344616;PMID:15952209)
- Small hand (HP:0200055): Disproportionately small hand. Evidence: TAS. (OMIM:268310)
- Kidney stone (HP:0000787): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: PCS. Frequency: 1/2. (PMID:15952209)
- 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: PCS. Frequency: 5/10. (PMID:35344616)
These phenotypes are associated with the disease autosomal recessive Robinow syndrome (OMIM:268310).