Phenotypes associated with the disease Dyggve-Melchior-Clausen disease (OMIM:223800):
- Tibial bowing (HP:0002982): A bending or abnormal curvature of the tibia. Evidence: PCS. Frequency: 1/15. (PMID:19816730)
- Carpal bone hypoplasia (HP:0001498): Underdevelopment of one or more carpal bones. Evidence: PCS. Frequency: 2/2. (PMID:24300288)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: PCS. Frequency: 1/15. (PMID:19816730)
- Hypoplastic scapulae (HP:0000882): Underdeveloped scapula. Evidence: TAS. (OMIM:223800)
- Hypoplasia of the odontoid process (HP:0003311): Developmental hypoplasia of the dens of the axis. Evidence: PCS. Frequency: 1/2. (PMID:24300288)
- Limitation of joint mobility (HP:0001376): A reduction in the freedom of movement of one or more joints. Evidence: PCS. Frequency: 7/15. (PMID:19816730)
- 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: PCS. Frequency: 2/2. (PMID:24300288)
- Coarse facial features (HP:0000280): Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Evidence: PCS. Frequency: 2/2. (PMID:24300288)
- Prominent calcaneus (HP:0012428): Protruding heel bone, or calcaneus. Evidence: PCS. Frequency: 3/15. (PMID:19816730)
- Thick oral frenulum (HP:0034414): Increased thickness of an oral frenulum, flaps of mucous membrane that extend from the midline gingiva to the upper or lower lip. Evidence: PCS. Frequency: 1/2. (PMID:24300288)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: PCS. Frequency: 1/2. (PMID:24300288)
- Shield chest (HP:0000914): A broad chest. Evidence: PCS. Frequency: 14/15. (PMID:19816730)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:24300288)
- Smooth philtrum (HP:0000319): Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. Evidence: PCS. Frequency: 1/2. (PMID:24300288)
- Lumbar hyperlordosis (HP:0002938): An abnormal accentuation of the inward curvature of the spine in the lumbar region. Evidence: PCS. Frequency: 16/16. (PMID:19816730;PMID:24300288)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: TAS. (OMIM:223800)
- Broad foot (HP:0001769): A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length. Evidence: TAS. (OMIM:223800)
- Flat glenoid fossa (HP:0000911): Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. Evidence: TAS. (OMIM:223800)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: PCS. Frequency: 16/17. (PMID:19816730;PMID:24300288)
- Broad palm (HP:0001169): For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length. Evidence: TAS. (OMIM:223800)
- 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: PCS. Frequency: 3/15. (PMID:19816730)
- 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: 2/2. (PMID:24300288)
- Multicentric ossification of proximal humeral epiphyses (HP:0004997). Evidence: TAS. (OMIM:223800)
- Disproportionate short-trunk short stature (HP:0003521): A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. Evidence: TAS. (OMIM:223800)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 1/2. (PMID:24300288)
- Absent speech (HP:0001344): Complete lack of development of speech and language abilities. Evidence: PCS. Frequency: 1/2. (PMID:24300288)
- Thick eyebrow (HP:0000574): Increased density/number and/or increased diameter of eyebrow hairs. Evidence: PCS. Frequency: 1/2. (PMID:24300288)
- Rectal prolapse (HP:0002035): Protrusion of the rectal mucous membrane through the anus. Evidence: PCS. Frequency: 1/2. (PMID:24300288)
- 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: TAS. (OMIM:223800)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: PCS. Frequency: 12/12. (PMID:24300288;PMID:12491225)
- 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: TAS. (OMIM:223800)
- Enlargement of the costochondral junction (HP:0000920): Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. Evidence: TAS. (OMIM:223800)
- 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: 5/15. (PMID:19816730)
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: PCS. Frequency: 13/15. (PMID:19816730)
- Prominent sternum (HP:0000884). Evidence: TAS. (OMIM:223800)
- Thoracic kyphosis (HP:0002942): Over curvature of the thoracic region, leading to a round back or if sever to a hump. Evidence: TAS. (OMIM:223800)
- Flaring of lower rib cage (HP:0006589). Evidence: PCS. Frequency: 15/15. (PMID:19816730)
- Hypoplastic iliac wing (HP:0002866): Underdevelopment of the ilium ala. Evidence: PCS. Frequency: 1/2. (PMID:24300288)
- Beaking of vertebral bodies (HP:0004568): Anterior tongue-like protrusions of the vertebral bodies. Evidence: PCS. Frequency: 2/2. (PMID:24300288)
- Metaphyseal widening (HP:0003016): Abnormal widening of the metaphyseal regions of long bones. Evidence: PCS. Frequency: 15/15. (PMID:19816730)
- Rhizomelia (HP:0008905): Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). Evidence: PCS. Frequency: 2/2. (PMID:24300288)
- Barrel-shaped chest (HP:0001552): A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis. Evidence: TAS. (OMIM:223800)
- 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: 15/15. (PMID:19816730)
- Thickened calvaria (HP:0002684): The presence of an abnormally thick calvaria. Evidence: TAS. (OMIM:223800)
- Deformed sella turcica (HP:0002681). Evidence: TAS. (OMIM:223800)
- Narrow greater sciatic notch (HP:0003375): A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. Evidence: TAS. (OMIM:223800)
- Short metatarsal (HP:0010743): Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. Evidence: PCS. Frequency: 2/2. (PMID:24300288)
- Cone-shaped epiphyses of the phalanges of the hand (HP:0010230): A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. Evidence: TAS. (OMIM:223800)
- Multicentric ossification of proximal femoral epiphyses (HP:0006450). Evidence: TAS. (OMIM:223800)
- Waddling gait (HP:0002515): Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck. Evidence: PCS. Frequency: 1/2. (PMID:24300288)
- 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:24300288)
- Fine hair (HP:0002213): Hair that is fine or thin to the touch. Evidence: PCS. Frequency: 1/2. (PMID:24300288)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 13/17. (PMID:19816730;PMID:24300288)
- 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: PCS. Frequency: 1/15. (PMID:19816730)
- Genu varum (HP:0002970): A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. Evidence: PCS. Frequency: 1/15. (PMID:19816730)
- Hypoplastic facial bones (HP:0002692). Evidence: TAS. (OMIM:223800)
- Rhizomelic arm shortening (HP:0004991): Disproportionate shortening of the proximal segment of the arm (i.e. the humerus). Evidence: PCS. Frequency: 14/15. (PMID:19816730)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: PCS. Frequency: 16/17. (PMID:19816730;PMID:24300288)
- Wide pubic symphysis (HP:0003183): Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones. Evidence: PCS. Frequency: 2/2. (PMID:24300288)
- Severe global developmental delay (HP:0011344): A severe delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: TAS. (OMIM:223800)
- Flat acetabular roof (HP:0003180): Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does. Evidence: PCS. Frequency: 1/2. (PMID:24300288)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: PCS. Frequency: 8/15. (PMID:19816730)
- Iliac crest serration (HP:0008786): Irregularities of the iliac crest that produce the appearance of a lace border around it. Evidence: TAS. (OMIM:223800)
- Synophrys (HP:0000664): Meeting of the medial eyebrows in the midline. Evidence: PCS. Frequency: 1/2. (PMID:24300288)
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: TAS. (OMIM:223800)