- Enlarged joints (HP:0003037): Increase in size of one or more joints. Evidence: PCS. Frequency: 11/14. (PMID:24988918;PMID:14740318)
- Tibial bowing (HP:0002982): A bending or abnormal curvature of the tibia. Evidence: TAS. (OMIM:601559)
- Milia (HP:0001056): Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin. Evidence: PCS. Frequency: 5/12. (PMID:24988918)
- Opacification of the corneal stroma (HP:0007759): Reduced transparency of the stroma of cornea. Evidence: IEA. (OMIM:601559)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: PCS. Frequency: 6/6. (PMID:24988918)
- Square face (HP:0000321): Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance. Evidence: PCS. Frequency: 1/6. (PMID:24988918)
- 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: 2/6. Onset: Infantile onset (HP:0003593). (PMID:24988918)
- Talipes valgus (HP:0004684): Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot. Evidence: TAS. (OMIM:601559)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: PCS. Frequency: 2/12. (PMID:24988918)
- 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: 6/6. (PMID:24988918)
- 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: TAS. (OMIM:601559)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. (OMIM:601559)
- Short palpebral fissure (HP:0012745): Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. Evidence: PCS. Frequency: 12/12. (PMID:24988918)
- Contracture of the proximal interphalangeal joint of the 5th finger (HP:0009185): Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. Evidence: PCS. Frequency: 6/6. (PMID:24988918)
- Smooth tongue (HP:0010298): Glossy appearance of the entire tongue surface. Evidence: PCS. Frequency: 13/14. (PMID:24988918;PMID:14740318)
- Hoarse voice (HP:0001609): Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. Evidence: IEA. (OMIM:601559)
- Ulnar deviation of finger (HP:0009465): Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. Evidence: IEA. (OMIM:601559)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: TAS. (OMIM:601559)
- Death in infancy (HP:0001522): Death within the first 24 months of life. Evidence: PCS. Frequency: 3/6. (PMID:24988918)
- 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: PCS. Frequency: 0/6. (PMID:24988918)
- Decreased lacrimation (HP:0000633): Abnormally decreased lacrimation, that is, reduced tear production. Evidence: PCS. Frequency: 8/12. (PMID:24988918)
- Impaired pain sensation (HP:0007328): Reduced ability to perceive painful stimuli. Evidence: PCS. Frequency: 6/6. (PMID:24988918)
- 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: 6/6. (PMID:24988918)
- Full cheeks (HP:0000293): Increased prominence or roundness of soft tissues between zygomata and mandible. Evidence: PCS. Frequency: 12/12. (PMID:24988918)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: PCS. Frequency: 6/6. (PMID:24988918)
- 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: 4/6. (PMID:24988918)
- Abnormality of temperature regulation (HP:0004370): An abnormality of temperature homeostasis. Evidence: PCS. Frequency: 6/6. (PMID:24988918)
- Adducted thumb (HP:0001181): In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger. Evidence: TAS. (OMIM:601559)
- Wide nasal base (HP:0012810): Increased distance between the attachments of the alae nasi to the face. Evidence: PCS. Frequency: 6/6. (PMID:24988918)
- 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: 6/6. (PMID:24988918)
- Knee flexion contracture (HP:0006380): 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: TAS. (OMIM:601559)
- 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:14740318)
- Pursed lips (HP:0000205): An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance. Evidence: PCS. Frequency: 5/6. (PMID:24988918)
- Clubbing (HP:0001217): Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. Evidence: PCS. Frequency: 3/6. (PMID:24988918)
- 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: TAS. (OMIM:601559)
- Short tibia (HP:0005736): Underdevelopment (reduced size) of the tibia. Evidence: TAS. (OMIM:601559)
- Thin ribs (HP:0000883): Ribs with a reduced diameter. Evidence: TAS. (OMIM:601559)
- Apnea (HP:0002104): Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. Evidence: TAS. (OMIM:601559)
- 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: 6/6. (PMID:24988918)
- Thin skin (HP:0000963): Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. Evidence: TAS. (OMIM:601559)
- Hypernasal speech (HP:0001611): A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages. Evidence: TAS. (OMIM:601559)
- Pulmonary arterial medial hypertrophy (HP:0004964): Increase in mass of the tunica media of the arteries in the pulmonary circulation. Evidence: TAS. (OMIM:601559)
- Diaphyseal undertubulation (HP:0005019): Tubulation refers to the size and shape of tubular bones. In children and adolescents, the modeling process regulates normal bone growth. Final shaft (tube) diameter depends on appositional bone growth and the equilibrium between periosteal and endosteal bone resorption and formation. Undertubulation refers to a broad, widened form of the shafts (diaphyses) of long bones. Evidence: PCS. Frequency: 14/14. (PMID:24988918;PMID:14740318)
- Flared metaphysis (HP:0003015): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. Evidence: TAS. (OMIM:601559)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 12/12. (PMID:24988918)
- Flexion contracture of toe (HP:0005830): One or more bent (flexed) toe joints that cannot be straightened actively or passively. Evidence: TAS. (OMIM:601559)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. (OMIM:601559)
- Myotonia (HP:0002486): An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. Evidence: IEA. (OMIM:601559)
- 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: 6/6. (PMID:24988918)
- 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: 2/6. (PMID:24988918)
- Metaphyseal rarefaction (HP:0004980): Reduction in density of metaphyseal bony tissue. Evidence: PCS. Frequency: 6/6. (PMID:24988918)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 12/12. (PMID:24988918)
- Broad ischia (HP:0100865): Increased width of the ischium, which forms the lower and back part of the hip bone. Evidence: TAS. (OMIM:601559)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: PCS. Frequency: 6/6. (PMID:24988918)
- Abnormal autonomic nervous system physiology (HP:0012332): A functional abnormality of the autonomic nervous system. Evidence: IEA. (OMIM:601559)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. Frequency: 12/12. (PMID:24988918)
- Thickened cortex of long bones (HP:0000935): Abnormal thickening of the cortex of long bones. Evidence: TAS. (OMIM:601559)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: PCS. Frequency: 5/5. (PMID:24988918)
- Low hanging columella (HP:0009765): Columella extending inferior to the level of the nasal base, when viewed from the side. Evidence: PCS. Frequency: 6/6. (PMID:24988918)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: PCS. Frequency: 6/6. Onset: Congenital onset (HP:0003577). (PMID:24988918)
- Pathologic fracture (HP:0002756): A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone. Evidence: PCS. Frequency: 2/6. (PMID:24988918)
- Short phalanx of finger (HP:0009803): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: IEA. (OMIM:601559)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: TAS. (OMIM:601559)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: PCS. Frequency: 1/6. Onset: Fetal onset (HP:0011461). (PMID:24988918)
- Oligohydramnios (HP:0001562): Diminished amniotic fluid volume in pregnancy. Evidence: PCS. Frequency: 1/6. (PMID:24988918)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: IEA. (OMIM:601559)
- Carious teeth (HP:0000670): Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. Evidence: PCS. Frequency: 3/3. (PMID:24988918)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 10/14. (PMID:24988918;PMID:14740318)
- Talipes (HP:0001883): A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. Evidence: IEA. (OMIM:601559)
- Thin vermilion border (HP:0000233): Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). Evidence: PCS. Frequency: 12/12. (PMID:24988918)
- Ovoid vertebral bodies (HP:0003300): When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval. Evidence: PCS. Frequency: 1/6. (PMID:24988918)
- Abnormal metaphyseal trabeculation (HP:0005089): An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone. Evidence: TAS. (OMIM:601559)
- 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: TAS. (OMIM:601559)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. (OMIM:601559)
- Pulmonary arterial hypertension (HP:0002092): Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. Evidence: TAS. (OMIM:601559)
- Respiratory insufficiency (HP:0002093). Evidence: PCS. Frequency: 6/6. (PMID:24988918)
- 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: 2/6. (PMID:24988918)
- Absent corneal reflex (HP:0034252): Absence of the corneal blinking reflex, which normally induces involuntary blinking of the eyelids following contact of the cornea. The corneal blink reflex is caused by a loop between the trigeminal sensory nerves and the facial motor (VII) nerve innervation of the orbicularis oculi muscles. Evidence: PCS. Frequency: 8/8. (PMID:14740318)
- Recurrent fever (HP:0001954): Periodic (episodic or recurrent) bouts of fever. Evidence: IEA. (OMIM:601559)
- Bowing of the long bones (HP:0006487): A bending or abnormal curvature of a long bone. Evidence: PCS. Onset: Congenital onset (HP:0003577). (PMID:14740318)
- Blotching pigmentation of the skin (HP:0007610). Evidence: IEA. (OMIM:601559)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: PCS. Frequency: 2/6. (PMID:24988918)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: PCS. Frequency: 0/6. (PMID:24988918)
- Hypoplastic iliac body (HP:0008824): Underdevelopment of the body of ilium. Evidence: TAS. (OMIM:601559)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 5/6. (PMID:24988918)
- Absent patellar reflexes (HP:0006844): Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella. Evidence: PCS. Frequency: 8/14. (PMID:24988918;OMIM:601559)
These phenotypes are associated with the disease Stüve-Wiedemann syndrome 1 (OMIM:601559).