Phenotypes associated with the disease Melnick-Needles syndrome (OMIM:309350):
- Hypoplastic scapulae (HP:0000882): Underdeveloped scapula. Evidence: IEA. (OMIM:309350)
- 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: IEA. (OMIM:309350)
- 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: 1/1. (PMID:16538226)
- Thoracic hypoplasia (HP:0005257). Evidence: PCS. Frequency: 1/1. (PMID:16538226)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: PCS. Frequency: 2/2. (PMID:40996075)
- Pulmonic regurgitation (HP:0010444): The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Increased size of nasopharyngeal adenoids (HP:0040261): An abnormal increase in the size of nasopharyngeal adenoids. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- 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:309350)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Laryngomalacia (HP:0001601): Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- 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: PCS. Frequency: 1/1. (PMID:40996075)
- Anterior concavity of thoracic vertebrae (HP:0004611). Evidence: IEA. (OMIM:309350)
- Highly arched eyebrow (HP:0002553): Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. Evidence: PCS. Frequency: 2/2. (PMID:40996075)
- Coxa valga (HP:0002673): Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). Evidence: PCS. Frequency: 2/2. (PMID:40996075)
- Thoracoabdominal wall defect (HP:0100656): Failure of the chest and abdominal wall to close, which is likely caused by the failure of the ventral wall to close during week 4 of development. Evidence: PCS. Frequency: 1/1. (PMID:36734119)
- Arthralgia (HP:0002829): Joint pain. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: IEA. (OMIM:309350)
- Undulate clavicle (HP:0010560): An abnormally wavy surface or edge of the clavicles. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- 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: 1/1. (PMID:40996075)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: IEA. (OMIM:309350)
- Macrotia (HP:0000400): Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). Evidence: IEA. (OMIM:309350)
- 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: 2/2. (PMID:40996075;PMID:36734119)
- 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: 2/2. (PMID:40996075)
- Tracheobronchomalacia (HP:0002786): Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways. Evidence: PCS. Frequency: 2/2. (PMID:40996075;PMID:16538226)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: PCS. Frequency: 1/1. (PMID:16538226)
- 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: 2/2. (PMID:40996075)
- Abnormality of radial diaphysis (HP:0004027): An anomaly of the radial diaphysis. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Deep philtrum (HP:0002002): Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: IEA. (OMIM:309350)
- Atrial septal dilatation (HP:0011995): A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Renal tubular acidosis (HP:0001947): Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Foot pain (HP:0025238): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Tricuspid valve prolapse (HP:0001704): One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle. Evidence: IEA. (OMIM:309350)
- High palate (HP:0000218): 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: PCS. Frequency: 1/1. (PMID:40996075)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- X-linked dominant inheritance (HP:0001423): A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. Evidence: PCS. (PMID:16538226)
- Prolonged neonatal jaundice (HP:0006579): Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Prominent supraorbital ridges (HP:0000336): Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Long neck (HP:0000472): Increased inferior-superior length of the neck. Evidence: IEA. (OMIM:309350)
- Bilateral sensorineural hearing impairment (HP:0008619): A form of sensorineural hearing impairment that affects both ears. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: IEA. (OMIM:309350)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Raynaud phenomenon (HP:0030880). Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Sparse upper eyelashes (HP:0040050). Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- 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: PCS. Frequency: 1/1. (PMID:40996075)
- Ureteral stenosis (HP:0000071): The presence of a stenotic, i.e., constricted ureter. Evidence: PCS. Frequency: 1/1. (PMID:16538226)
- Sparse lower eyelashes (HP:0007776). Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Lactose intolerance (HP:0004789): An inability to digest lactose. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 3/3. (PMID:40996075;PMID:36734119)
- Tibial bowing (HP:0002982): A bending or abnormal curvature of the tibia. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Delayed eruption of teeth (HP:0000684): Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. Evidence: IEA. (OMIM:309350)
- Limited elbow extension (HP:0001377): Limited ability to straighten the arm at the elbow joint. Evidence: IEA. (OMIM:309350)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that 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 of joints. Evidence: PCS. Frequency: 1/1. (PMID:36734119)
- Frontal hirsutism (HP:0011335): Excessive amount of hair growth on forehead. Evidence: TAS. (OMIM:309350)
- Cone-shaped epiphyses of the distal phalanges of the hand (HP:0010248). Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Prominent forehead (HP:0011220): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Bowing of the legs (HP:0002979): A bending or abnormal curvature affecting a long bone of the leg. Evidence: PCS. Frequency: 1/1. (PMID:16538226)
- 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: 2/2. (PMID:40996075)
- Stillbirth (HP:0003826): Death of the fetus in utero after at least 22 weeks of gestation. Evidence: TAS. (OMIM:309350)
- Esodeviation (HP:0020045): A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: PCS. Frequency: 2/2. (PMID:40996075)
- Pes planus (HP:0001763): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: IEA. (OMIM:309350)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: PCS. Frequency: 2/2. (PMID:40996075)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: IEA. (OMIM:309350)
- Cleft palate (HP:0000175): 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: IEA. (OMIM:309350)
- Hip dysplasia (HP:0001385): The presence of developmental dysplasia of the hip. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Tooth malposition (HP:0000692): Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth. Evidence: IEA. (OMIM:309350)
- Deviated nasal septum (HP:0004411): Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Obstructive sleep apnea (HP:0002870): Obstructive Sleep Apnea is a condition characterized by the obstruction of the airway and pauses in breathing during sleep, which occur multiple times throughout the night. It is related to the relaxation of muscle tone that typically happens during sleep, leading to a partial collapse of the soft tissues in the airway and causing airflow obstruction. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Thick eyebrow (HP:0000574): Increased density/number and/or increased diameter of eyebrow hairs. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Full cheeks (HP:0000293): Increased prominence or roundness of soft tissues between zygomata and mandible. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Fetal cystic hygroma (HP:0010878): The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. Increased NT refers to a measurement above the 95th centile, and the term is used irrespective of whether the collection of fluid is septated or not, and whether it is confined to the neck or envelopes the whole fetus. After 14 weeks, increased NT usually resolves, but in some cases it evolves into nuchal edema or cystic hygromas. Evidence: PCS. Frequency: 1/1. (PMID:36734119)
- Tricuspid regurgitation (HP:0005180): Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Wide nasal base (HP:0012810): Increased distance between the attachments of the alae nasi to the face. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- 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: 1/1. (PMID:40996075)
- Late first trimester onset (HP:0034199): This term refers to a phenotypic feature that was first observed prior to birth in the first trimester during the early fetal period, which is defined as 11 0/7 to 13 6/7 weeks of gestation (inclusive). Evidence: PCS. Frequency: 1/1. (PMID:36734119)
- Osteolytic defects of the phalanges of the hand (HP:0009771): Dissolution or degeneration of bone tissue of the phalanges of the hand. Evidence: IEA. (OMIM:309350)
- Rhinitis (HP:0012384): Inflammation of the nasal mucosa with nasal congestion. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Dental malocclusion (HP:0000689): Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- 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: IEA. (OMIM:309350)
- Triangular face (HP:0000325): Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Flared metaphysis (HP:0003015): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. Evidence: IEA. (OMIM:309350)
- Thickened calvaria (HP:0002684): The presence of an abnormally thick calvaria. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Wide anterior fontanel (HP:0000260): Enlargement of the anterior fontanelle with respect to age-dependent norms. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Short humerus (HP:0005792): Underdevelopment of the humerus. Evidence: IEA. (OMIM:309350)
- Prominent nasal tip (HP:0005274). Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Anti-PM-Scl75 antibody positivity (HP:0034086): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against PM-Scl75. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- 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:40996075)
- Ventricular septal defect (HP:0001629): 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: PCS. Frequency: 1/1. (PMID:16538226)
- Anti-Ku antibody positivity (HP:0034088): The presence of autoantibodies (immunoglobulins) in the blood circulation that react against Ku. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- 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: 2/2. (PMID:40996075)
- Narrow chest (HP:0000774): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: PCS. Frequency: 2/2. (PMID:40996075)
- 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: PCS. Frequency: 1/1. (PMID:40996075)
- Short clavicles (HP:0000894): Reduced length of the clavicles. Evidence: PCS. Frequency: 2/2. (PMID:40996075)
- Erlenmeyer flask deformity of the femurs (HP:0004975): Flaring of distal femur. Evidence: PCS. Frequency: 2/2. (PMID:40996075)
- Fine hair (HP:0002213): Hair that is fine or thin to the touch. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Obtuse angle of mandible (HP:0005446): Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal. Evidence: TAS. (OMIM:309350)
- Small face (HP:0000274): A face that is short and narrow. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Sclerosis of skull base (HP:0002694): Increased bone density of the skull base without significant changes in bony contour. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- 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: IEA. (OMIM:309350)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: PCS. Frequency: 1/1. (PMID:36734119)
- Underdeveloped nasal alae (HP:0000430): Thinned, deficient, or excessively arched ala nasi. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- 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: IEA. (OMIM:309350)
- Broad thumb (HP:0011304): Increased thumb width without increased dorso-ventral dimension. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Bowing of the arm (HP:0006488): A bending or abnormal curvature affecting a long bone of the arm. Evidence: PCS. Frequency: 1/1. (PMID:16538226)
- Coarse hair (HP:0002208): Hair shafts are rough in texture. Evidence: IEA. (OMIM:309350)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: IEA. (OMIM:309350)
- Synophrys (HP:0000664): Meeting of the medial eyebrows in the midline. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Atrial septal defect (HP:0001631): 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: PCS. Frequency: 1/1. (PMID:16538226)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Otitis media (HP:0000388): Inflammation or infection of the middle ear. Evidence: PCS. Frequency: 1/1. (PMID:40996075)
- Mitral valve prolapse (HP:0001634): One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. Evidence: IEA. (OMIM:309350)