High palate, and Arthralgia

Diseases related with High palate and Arthralgia

In the following list you will find some of the most common rare diseases related to High palate and Arthralgia that can help you solving undiagnosed cases.

Top matches:

Leri-Weill dyschondrosteosis (LWD) is a dominantly inherited skeletal dysplasia characterized by short stature, mesomelia, and Madelung wrist deformity. Although the disorder occurs in both sexes, it is usually more severe in females, perhaps due to sex difference in estrogen levels. However, pubertal development and fertility are generally normal in both sexes with the disorder (summary by Ross et al., 2005). The Madelung wrist deformity includes deformity of the distal radius and ulna and proximal carpal bones (Langer, 1965).See also Langer mesomelic dysplasia (LMD ), a more severe phenotype that results from homozygous defect in the SHOX or SHOXY genes.

LERI-WEILL DYSCHONDROSTEOSIS; LWD Is also known as dyschondrosteosis|dco

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • High palate
  • Severe short stature


SOURCES: OMIM MENDELIAN

More info about LERI-WEILL DYSCHONDROSTEOSIS; LWD

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 Is also known as pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive|touraine-solente-gole syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cleft palate
  • Pain
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

Other less relevant matches:

Related symptoms:

  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cataract
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY

High match MARSHALL SYNDROME

Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MARSHALL SYNDROME

CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.

CHST3-RELATED SKELETAL DYSPLASIA Is also known as chondrodysplasia with multiple dislocations|cdmd|humerospinal dysostosis|spondyloepiphyseal dysplasia with congenital joint dyslocations, chst3 type|sdcd, chst3 type|hsd|spondyloepiphyseal dysplasia, omani type|chondrodysplasia with congenital joint dislo

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHST3-RELATED SKELETAL DYSPLASIA

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with acetylcholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Ptosis
  • High palate
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C

Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.

NEURALGIC AMYOTROPHY Is also known as mononeuritis multiplex with brachial predilection|acute brachial plexus neuritis|immune brachial plexus neuropathy|brachial plexus neuritis|neuralgic shoulder amyotrophy

Related symptoms:

  • Short stature
  • Muscle weakness
  • Cleft palate
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about NEURALGIC AMYOTROPHY

Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994).

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA Is also known as osmed, heterozygous|weissenbacher-zweymuller syndrome|pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly|stl3, formerly|stickler syndrome, type iii, formerly|wzs

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA

Related symptoms:

  • Intellectual disability
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 1

Top 5 symptoms//phenotypes associated to High palate and Arthralgia

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Platyspondyly Uncommon - Between 30% and 50% cases
Long philtrum Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with High palate and Arthralgia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Flexion contracture Pectus excavatum Sensorineural hearing impairment Myopia Proptosis Midface retrusion Pain Muscle weakness Hypertelorism Retinal detachment Arthropathy Osteoarthritis Motor delay Cataract Skeletal dysplasia

Rare Symptoms - Less than 30% cases

Tibial bowing Narrow mouth Abnormality of the dentition Wormian bones Camptodactyly Limb undergrowth Talipes Malar flattening Short nose Anteverted nares Large fontanelles Mitral valve prolapse Limitation of joint mobility Mitral regurgitation Respiratory insufficiency Joint dislocation Delayed gross motor development Ulnar bowing Patent foramen ovale Bilateral talipes equinovarus Arthritis Conductive hearing impairment Micrognathia Ptosis Severe short stature Scoliosis Sparse and thin eyebrow Brachycephaly Rhizomelia Pierre-Robin sequence Short distal phalanx of finger Radial bowing Short 4th metacarpal Abnormality of the carpal bones High myopia Hypoplasia of the ulna Hypoplasia of the maxilla Sparse eyebrow Abnormal vitreous humor morphology Thickened calvaria Abnormal facial shape Frontal bossing Vitreoretinopathy Genu valgum Coxa valga Talipes equinovarus Hyperhidrosis Delayed skeletal maturation Microdontia Wide intermamillary distance Bowing of the long bones Cubitus valgus Ventricular hypertrophy Elbow dislocation Abnormal form of the vertebral bodies Aortic valve stenosis Lumbar hyperlordosis Widely spaced teeth Spina bifida Aortic regurgitation Pulmonary arterial hypertension Bilateral single transverse palmar creases Spina bifida occulta Heart murmur Camptodactyly of finger Waddling gait Short neck Absent frontal sinuses Hypoplastic frontal sinuses Calcification of falx cerebri Macrodontia of permanent maxillary central incisor Irregular proximal tibial epiphyses Irregular distal femoral epiphysis Wide tufts of distal phalanges Small proximal tibial epiphyses Meningeal calcification Small distal femoral epiphysis Brachydactyly Ventricular septal defect Kyphosis Short metacarpal Abnormality of cardiovascular system morphology Kyphoscoliosis Pes planus Hyperlordosis Spondyloepiphyseal dysplasia Microtia Broad forehead Hip dislocation Pulmonic stenosis Thick eyebrow Highly arched eyebrow Delayed eruption of teeth Tricuspid regurgitation Coronal cleft vertebrae Hallux valgus EMG abnormality Generalized hypotonia Feeding difficulties Fatigue Dysphagia Facial palsy Limb muscle weakness Peripheral neuropathy Skeletal muscle atrophy Paralysis Neurological speech impairment Paresthesia Sleep disturbance Polyneuropathy Round face Scapular winging Deviation of the 5th finger Cleft soft palate Abnormality of epiphysis morphology Joint hyperflexibility Visual loss Intellectual disability Enlarged epiphyses Premature osteoarthritis Exostoses Sprengel anomaly Glossoptosis Abnormal joint morphology Epiphyseal dysplasia Pectus carinatum Abnormality of the eye Acrocyanosis Fixed elbow flexion Multiple carpal ossification centers Short femoral neck Shield chest Short thorax Limited elbow extension Vertebral fusion Thin ribs Short humerus Irregular vertebral endplates Thoracic kyphosis Abnormality of the elbow Barrel-shaped chest High anterior hairline Mitral stenosis Disproportionate short-trunk short stature Enlarged joints Small epiphyses Irregular epiphyses Limited hip extension Sclerotic vertebral endplates Generalized bone demineralization Intervertebral disc degeneration Tricuspid stenosis Anisospondyly Intervertebral space narrowing Narrow vertebral interpedicular distance Shoulder dislocation Hypoplasia of the capital femoral epiphysis Multiple joint dislocation Knee dislocation Decreased hip abduction Spinal deformities Frontal upsweep of hair Flattened epiphysis Lens luxation Depressivity Anhidrotic ectodermal dysplasia Growth delay Scarring Arachnodactyly Joint hypermobility Bruising susceptibility Generalized muscle weakness Blue sclerae Dental crowding Adducted thumb Hyperextensible skin Fragile skin Facial hypotonia Hypoplasia of the musculature Neoplasm Telecanthus Patent ductus arteriosus Abnormal heart morphology Osteoporosis Osteopenia Coarse facial features Erythema Skin rash Thickened skin Palmoplantar hyperkeratosis Redundant skin Clubbing Acne Protruding ear Myalgia Growth hormone excess Limited elbow movement High, narrow palate Tall stature Short toe Disproportionate short-limb short stature Hypoplasia of the radius Skeletal muscle hypertrophy Mesomelia Gonadal dysgenesis Fibular hypoplasia Upper limb undergrowth Short tibia Abnormality of the humerus Madelung deformity Inguinal hernia Multiple exostoses Mesomelic short stature Long fibula Limited wrist movement Shortening of the tibia Abnormal metatarsal morphology Dorsal subluxation of ulna Increased carrying angle Global developmental delay Downslanted palpebral fissures Myopathy Cerebral atrophy Hernia Disproportionate tall stature Joint swelling Concave nasal ridge Esotropia Visual impairment Depressed nasal bridge Epicanthus Wide nasal bridge Abnormality of the skeletal system Glaucoma Sparse hair Hypotrichosis Congenital cataract Flat face Bifid uvula Ectodermal dysplasia Otitis media Strabismus Cerebral calcification Thick lower lip vermilion Sparse scalp hair Recurrent otitis media Amblyopia Hypohidrosis Sparse eyelashes Ectopia lentis Aplasia cutis congenita Hypoplasia of the zygomatic bone Thick upper lip vermilion Hypoplastic ilia Low-set ears Nystagmus Heart block Thin skin Flushing Osteolytic defects of the phalanges of the hand Clubbing of fingers Seborrheic dermatitis Long clavicles Wide cranial sutures Hip pain Eczematoid dermatitis Periostosis Subperiosteal bone formation Muscular hypotonia Alopecia Insulin resistance Acroosteolysis of distal phalanges (feet) Hyperpigmentation of the skin Osteolysis Hyperlipidemia Dermal atrophy Abnormality of the musculature Prematurely aged appearance Absent eyelashes Abnormal eyebrow morphology Progeroid facial appearance Lack of skin elasticity Breast aplasia Osteolytic defects of the distal phalanges of the hand Aplasia/Hypoplasia of the clavicles Abnormality of vertebral epiphysis morphology


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Joint hypermobility, related diseases and genetic alterations Neuroblastoma and Hepatomegaly, related diseases and genetic alterations Tremor and Hypodontia, related diseases and genetic alterations Hydrocephalus and Cleft upper lip, related diseases and genetic alterations Depressed nasal bridge and Irritability, related diseases and genetic alterations Immunodeficiency and Acute lymphoblastic leukemia, related diseases and genetic alterations