Cleft palate, and Arthralgia

Diseases related with Cleft palate and Arthralgia

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


Top matches:

Medium match NEURALGIC AMYOTROPHY


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

Medium match OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA


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

Medium match STICKLER SYNDROME TYPE 1


Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 1

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Other less relevant matches:

Medium match STICKLER SYNDROME TYPE 3


Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.

STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2|stickler syndrome, beaded vitreous type|stickler syndrome, non-ocular type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 3

Medium match CZECH DYSPLASIA, METATARSAL TYPE


Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.

CZECH DYSPLASIA, METATARSAL TYPE Is also known as pseudorheumatoid dysplasia, progressive, with hypoplastic toes|spondyloepiphyseal dysplasia with precocious osteoarthritis|czech dysplasia, metatarsal type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • Pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CZECH DYSPLASIA, METATARSAL TYPE

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4


Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 Is also known as med4|multiple epiphyseal dysplasia, autosomal recessive|rmed|edm4|polyepiphyseal dysplasia type 4|multiple epiphyseal dysplasia with bilayered patellae|autosomal recessive multiple epiphyseal dysplasia|multiple epiphyseal dysplasia with clubfoot

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Cleft palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4

Medium match HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1


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

Medium match OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA


Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Is also known as chondrodystrophy with sensorineural deafness|weissenbacher-zweymuller syndrome, formerly|nance-insley syndrome|osmed|nance-sweeney chondrodysplasia|wzs, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA

Medium 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

Medium match DIASTROPHIC DWARFISM


Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

DIASTROPHIC DWARFISM Is also known as diastrophic dysplasia|dd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIASTROPHIC DWARFISM

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

Symptoms // Phenotype % cases
Osteoarthritis Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Platyspondyly Midface retrusion Myopia Micrognathia Retinal detachment Pain Malar flattening Depressed nasal bridge Arthropathy Pierre-Robin sequence Skeletal dysplasia Long philtrum Anteverted nares Scoliosis Vitreoretinopathy Cataract Short nose Proptosis Epiphyseal dysplasia Short metacarpal Arthritis Abnormal vitreous humor morphology Abnormality of the skeletal system Abnormal joint morphology Glossoptosis Hypertelorism Spondyloepiphyseal dysplasia Pectus excavatum

Rare Symptoms - Less than 30% cases


Short long bone Limb undergrowth Cerebral calcification Brachydactyly Strabismus Thickened calvaria Hyperhidrosis Limitation of joint mobility Micromelia Growth abnormality Otitis media Abnormality of the metaphysis Flat capital femoral epiphysis High palate Abnormal form of the vertebral bodies Generalized hypotonia Muscular hypotonia Hip dysplasia Short finger Delayed skeletal maturation Abnormal heart morphology Growth delay Kyphosis Short phalanx of finger Joint stiffness Talipes equinovarus Bifid uvula Hypoplasia of the maxilla Premature osteoarthritis Enlarged epiphyses Exostoses Respiratory insufficiency Pectus carinatum Joint hyperflexibility High myopia Glaucoma Mitral valve prolapse Abnormality of epiphysis morphology Sparse and thin eyebrow Anhidrotic ectodermal dysplasia Neonatal short-limb short stature Flattened epiphysis Thick lower lip vermilion Sparse scalp hair Recurrent otitis media Amblyopia Concave nasal ridge Hypohidrosis Hypoplastic ilia Coxa valga Sparse eyelashes Thick upper lip vermilion Ectopia lentis Ulnar deviation of the wrist Sparse eyebrow Visceral angiomatosis Aplasia cutis congenita Radial bowing Hypoplasia of the zygomatic bone Spinal deformities Genu valgum Esotropia Abnormality of the dentition Abnormal lacrimal duct morphology Large tarsal bones Aplasia/Hypoplasia of the capital femoral epiphysis Nystagmus Low-set ears Visual impairment Epicanthus Cystic lesions of the pinnae Wide nasal bridge Frontal bossing Costal cartilage calcification Laryngotracheal stenosis Ectodermal dysplasia Depressivity Brachycephaly Glabellar hemangioma Sparse hair Hypoplastic cervical vertebrae Hypotrichosis Congenital cataract Hitchhiker thumb Cervical kyphosis Lens luxation Flat face Ulnar bowing Irregular distal femoral epiphysis Absent frontal sinuses Abnormality of the outer ear Abnormality of the ribs Interphalangeal joint contracture of finger Coronal cleft vertebrae Blue sclerae Symphalangism affecting the phalanges of the hand Bowing of the long bones Increased bone mineral density Hoarse voice Large earlobe Joint dislocation Abnormality of the metacarpal bones Talipes Disproportionate short-limb short stature Hyperextensible skin Elbow dislocation Overfolded helix Proximal placement of thumb Thoracic dysplasia Spinal cord compression Abnormality of the clavicle Ulnar deviation of finger Hip contracture Full cheeks Abnormality of the foot Hypoplastic frontal sinuses Abnormal facial shape Calcification of falx cerebri Macrodontia of permanent maxillary central incisor Irregular proximal tibial epiphyses Overweight Wide tufts of distal phalanges Small proximal tibial epiphyses Ulnar deviation of the hand Lethal skeletal dysplasia Meningeal calcification Small distal femoral epiphysis Cryptorchidism Arthrogryposis multiplex congenita Intrauterine growth retardation Macrocephaly Abnormality of cardiovascular system morphology Obesity Pneumonia Recurrent respiratory infections Severe short stature Irregular epiphyses Kyphoscoliosis Low-set, posteriorly rotated ears Camptodactyly of finger Prominent interphalangeal joints Eczematoid dermatitis Short 5th metacarpal Rigidity Short femoral neck Irregular vertebral endplates Thoracic kyphosis Narrow iliac wings Intervertebral space narrowing Periarticular calcification Narrow femoral neck Gait disturbance Clinodactyly Clinodactyly of the 5th finger Small hand Coxa vara Metaphyseal irregularity Short middle phalanx of finger Mild short stature Metatarsus adductus Bilateral talipes equinovarus Multiple epiphyseal dysplasia Abnormality of the knee Hip subluxation Knee pain Limited elbow flexion Short metatarsal Short toe Abnormality of the patella Scapular winging Peripheral neuropathy Skeletal muscle atrophy Narrow mouth Paralysis Neurological speech impairment Paresthesia Sleep disturbance Polyneuropathy Round face EMG abnormality Sprengel anomaly Waddling gait Acrocyanosis Abnormality of the eye Cleft soft palate Intellectual disability Visual loss Abnormality of vertebral epiphysis morphology Retinopathy Arachnodactyly Joint hypermobility Long fingers Abnormal metacarpal morphology Hypoplasia of the femoral head Double-layered patella Enlarged joints Lumbar hyperlordosis Periostosis Subperiosteal bone formation Ventricular septal defect Conductive hearing impairment Muscular hypotonia of the trunk Feeding difficulties in infancy Hyperlordosis Bulbous nose Short palm Abnormality of the skin Depressed nasal ridge Hip pain Encephalocele Rhizomelia Recurrent pneumonia Prominent supraorbital ridges Flared metaphysis Mixed hearing impairment Disproportionate short stature Occipital encephalocele Synostosis of carpal bones Meningocele Beaking of vertebral bodies Muscle weakness Wide cranial sutures Neoplasm Palmoplantar hyperkeratosis Ptosis Patent ductus arteriosus Osteoporosis Osteopenia Coarse facial features Erythema Skin rash Large fontanelles Thickened skin Wormian bones Redundant skin Long clavicles Patent foramen ovale Clubbing Acne Disproportionate tall stature Growth hormone excess Joint swelling Heart block Flushing Osteolytic defects of the phalanges of the hand Clubbing of fingers Seborrheic dermatitis Hypertrophic auricular cartilage



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