Arthritis, and Hypotelorism

Diseases related with Arthritis and Hypotelorism

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


Top matches:

Medium match MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY


Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.

MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY Is also known as multicentric osteolysis, autosomal dominant|idiopathic multicentric osteolysis with or without nephropathy|osteolysis, hereditary, of carpal bones with or without nephropathy

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Hypertension
  • Wide nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY

Medium match PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY


Phosphoribosylpyrophosphate synthetase I superactivity is an X-linked inborn error of metabolism in which increased enzyme activity is associated with hyperuricemia and gout. Some affected individuals have neurodevelopmental abnormalities, particularly sensorineural deafness (Becker et al., 1988; Roessler et al., 1993).Although different kinetic defects affecting the PRPS1 enzyme have been identified in this disorder, the common pathway involves increased synthesis of phosphoribosylpyrophosphate (PRPP), which leads to increased uric acid and purine production (Becker, 2001).

PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY Is also known as prps1 superactivity

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA


Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

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Other less relevant matches:

Low 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

Low match MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE


Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Low match CATARACT-GLAUCOMA SYNDROME


Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Pain
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CATARACT-GLAUCOMA SYNDROME

Low match CONGENITAL TUFTING ENTEROPATHY


Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.

CONGENITAL TUFTING ENTEROPATHY Is also known as intestinal epithelial cell dysplasia|enteropathy, congenital tufting|ied|cte|intestinal epithelial dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL TUFTING ENTEROPATHY

Low match COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES


Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).

COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES Is also known as combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay|roifman-chitayat syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY WITH FACIOOCULOSKELETAL ANOMALIES

Low match HARLEQUIN ICHTHYOSIS


Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.

HARLEQUIN ICHTHYOSIS Is also known as ichthyosis congenita, harlequin type|'harlequin fetus'|ichthyosis congenita, harlequin fetus type|harlequin ichthyosis|ichthyosis fetalis, harlequin type|hi

Related symptoms:

  • Global developmental delay
  • Cataract
  • Respiratory insufficiency
  • Recurrent respiratory infections
  • Respiratory failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about HARLEQUIN ICHTHYOSIS

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE


Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE Is also known as spondylometaphyseal dysplasia|semd, strudwick type|smed, type i|spondylometaepiphyseal dysplasia congenita, strudwick type|semdc|smd|smed, strudwick type|strudwick syndrome|dappled metaphysis syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE

Top 5 symptoms//phenotypes associated to Arthritis and Hypotelorism

Symptoms // Phenotype % cases
Abnormality of epiphysis morphology Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Osteoarthritis Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Hypotelorism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Proptosis Global developmental delay Pneumonia Cleft palate Cataract Myopia Short neck Platyspondyly Limitation of joint mobility Retinal detachment Generalized hypotonia Hypertension Abnormal facial shape Arthralgia Osteopenia

Rare Symptoms - Less than 30% cases


Short thorax Respiratory failure Hearing impairment Sensorineural hearing impairment Motor delay Hyperactivity Underdeveloped supraorbital ridges Scoliosis Sepsis Small for gestational age Talipes equinovarus Respiratory distress Coxa vara Kyphosis Skeletal dysplasia Hyperlordosis Seizures Genu valgum Micromelia Micrognathia Inguinal hernia Flat face Pectus carinatum Triangular face Hypoplasia of the maxilla Polyhydramnios Gait disturbance Renal insufficiency Wide nasal bridge Wrist swelling Optic atrophy Villous atrophy Trichorrhexis nodosa Intractable diarrhea Secretory diarrhea Vaginal fistula Depressed nasal bridge Umbilical hernia Abnormality of the skeletal system Ventriculomegaly Immunodeficiency Generalized myoclonic seizures Short metacarpal Short metatarsal Cone-shaped epiphysis Ectopic kidney Combined immunodeficiency Lacrimal duct stenosis Choanal stenosis Long nose Celiac disease Failure to thrive Rickets Osteomalacia Premature loss of teeth Papilledema Chondrocalcinosis Chronic pain Premature loss of primary teeth Pulmonary insufficiency Microcephaly High palate Respiratory insufficiency Diarrhea Midface retrusion Posteriorly rotated ears Blepharophimosis Coloboma Anal atresia Abdominal distention Sloping forehead Abnormal intestine morphology Thin lower lip vermilion Recurrent respiratory infections Increased intracranial pressure Abnormality of the sternum Limb undergrowth Abnormality of the metaphysis Increased bone mineral density Hemangioma Short long bone Genu varum Abnormality of the urinary system Metaphyseal irregularity Spondyloepiphyseal dysplasia Short femoral neck Disproportionate short stature Severe short stature Protuberant abdomen Hypoplasia of the odontoid process Delayed epiphyseal ossification Spondyloepimetaphyseal dysplasia Anterior rib cupping Hypoplastic pubic bone Narrow greater sacrosciatic notches Delayed pubic bone ossification C1-C2 subluxation Club-shaped proximal femur Pes planus Hernia Hyperkeratosis Ectropion Rigidity Ichthyosis Everted lower lip vermilion Sudden cardiac death Premature birth Dehydration Depressed nasal ridge Thickened skin Recurrent skin infections Hand polydactyly Self-injurious behavior Brachydactyly Erythroderma Short finger Congenital ichthyosiform erythroderma Foot polydactyly Malignant hyperthermia Hearing abnormality Lack of skin elasticity Congenital nonbullous ichthyosiform erythroderma Hypergranulosis Eclabion Hypercalcemia Craniosynostosis Bone pain Hyperuricosuria Dysmetria Peripheral axonal neuropathy Polyneuropathy Convex nasal ridge Hyperuricemia Arnold-Chiari type I malformation Gout High-frequency hearing impairment Abnormal aortic morphology Increased urinary hypoxanthine Hypermetropia Excessive purine production Abnormality of skeletal muscles Uric acid nephrolithiasis Ulnar deviation of the hand or of fingers of the hand Ulnar deviation of the hand Juvenile rheumatoid arthritis Nystagmus Abnormality of the wrist Slender long bone Rheumatoid arthritis Abnormality of eye movement Neurological speech impairment Cachexia Epicanthus Carpal osteolysis Metatarsal osteolysis Metacarpal osteolysis Ataxia Growth delay Strabismus Doll-like facies Muscular hypotonia Ankle swelling Peripheral neuropathy Wide mouth Cardiomyopathy Hypertonia Recurrent infections Arrhythmia Areflexia Hypertensive retinopathy Prominent forehead Diabetes mellitus Azotemia Abnormality of the nervous system Elevated alkaline phosphatase Osteolysis Waddling gait Enlarged joints Finger syndactyly Hip dislocation Telecanthus Brain atrophy Lymphedema Joint dislocation Epiphyseal dysplasia Molar tooth sign on MRI Multiple epiphyseal dysplasia Proteinuria Agenesis of corpus callosum Pain Feeding difficulties Fever Vomiting Abnormality of the dentition Headache Constipation Brachycephaly Pes cavus Osteolysis involving tarsal bones Retinopathy Camptodactyly of finger Glaucoma Visual loss EMG abnormality Interphalangeal joint contracture of finger Broad forehead Narrow chest Nephropathy Downturned corners of mouth Stage 5 chronic kidney disease Pulmonic stenosis Short nose Long philtrum Joint hyperflexibility Clinodactyly Mitral valve prolapse Abnormal vitreous humor morphology Abnormality of vertebral epiphysis morphology Corneal opacity Low-set ears Macrocephaly Frontal bossing Malar flattening Obesity Pectus excavatum Metaphyseal dappling



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Finger syndactyly, related diseases and genetic alterations Neuroblastoma and Dandy-Walker malformation, related diseases and genetic alterations Brachydactyly and Single transverse palmar crease, related diseases and genetic alterations Pain and High myopia, related diseases and genetic alterations Peripheral neuropathy and Hypertonia, related diseases and genetic alterations Growth delay and Frontal bossing, related diseases and genetic alterations Sensorineural hearing impairment and Abnormality of the ribs, related diseases and genetic alterations

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