Autoimmunity, and Kyphosis

Diseases related with Autoimmunity and Kyphosis

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


Top matches:

Low match COWDEN SYNDROME 5; CWS5


Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 5; CWS5

Low match COWDEN SYNDROME 6; CWS6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 6; CWS6

Low match MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA


Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI


Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

Low match PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES


Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Low match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA


Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Low match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Low match KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

Top 5 symptoms//phenotypes associated to Autoimmunity and Kyphosis

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Scoliosis Common - Between 50% and 80% cases
Myopia Common - Between 50% and 80% cases
Hypothyroidism Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Autoimmunity and Kyphosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability, mild

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Cataract High palate Micrognathia Immunodeficiency Recurrent infections Hypertelorism Motor delay Global developmental delay Respiratory tract infection Diarrhea Kyphoscoliosis Generalized hypotonia Hydrocele testis Arthritis Growth delay Hashimoto thyroiditis Thyroiditis Hypoplasia of the maxilla Abnormality of the kidney Low-set ears Anemia Abnormality of the skeletal system Abnormality of the dentition Cognitive impairment Hernia Pneumonia Recurrent respiratory infections Severe short stature Skeletal dysplasia Short neck Hyperlordosis Pain Muscular hypotonia Muscle weakness Platyspondyly Lumbar hyperlordosis Abnormal lung morphology Cellular immunodeficiency Ataxia Nystagmus Sensorineural hearing impairment Hypermelanotic macule Waddling gait Pectus carinatum Decreased antibody level in blood Palmoplantar hyperkeratosis Hyperthyroidism Osteopenia Gynecomastia Frontal bossing Gait disturbance Brachydactyly Fibroadenoma of the breast Transitional cell carcinoma of the bladder Breast carcinoma Goiter Skin tags Narrow mouth Progressive macrocephaly Meningioma Varicocele Furrowed tongue Ovarian cyst Hamartomatous polyposis Subcutaneous lipoma Colonic diverticula Angioid streaks of the fundus Intention tremor Thyroid adenoma Corneal opacity Pectus excavatum

Rare Symptoms - Less than 30% cases


Failure to thrive Myopathy Patellar dislocation Congestive heart failure Strabismus Delayed speech and language development Talipes equinovarus Hypertension Hirsutism Cleft palate Epicanthus Skeletal muscle atrophy Macrocephaly Hydrocephalus Increased intracranial pressure Multiple cafe-au-lait spots Dental malocclusion Poor suck Congenital hip dislocation Depressivity Macrotia Joint laxity Proximal muscle weakness Areflexia Anxiety Feeding difficulties Ptosis Highly arched eyebrow Otitis media Macroglossia Abnormality of the vasculature Midface retrusion Malar flattening Cerebellar atrophy Lymphoma Atrial septal defect Dilatation Gliosis Abnormal cerebellum morphology Intellectual disability, moderate Astigmatism Malabsorption Joint hypermobility Heterotopia Polymicrogyria Headache Renal insufficiency Abnormality of the cardiovascular system Depressed nasal bridge Microdontia Lymphopenia Abnormal facial shape Cafe-au-lait spot Barrel-shaped chest Bowing of the legs Spondyloepiphyseal dysplasia Scaphocephaly Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Retinal degeneration Genu valgum Hip dislocation Broad forehead Melanocytic nevus Ovoid vertebral bodies Bulbous nose Vitiligo Recurrent bacterial infections Nephritis Gingival overgrowth Pes planus Encephalitis Arthralgia Purpura Coarse facial features Combined immunodeficiency Rhizomelia Abnormality of the thyroid gland Thrombocytopenia Pes cavus Abnormality of the cerebral white matter Micromelia Hemolytic anemia Subcutaneous nodule Spasticity Restrictive ventilatory defect Autoimmune hemolytic anemia Autoimmune thrombocytopenia Hypertrichosis Recurrent otitis media Autism Generalized abnormality of skin Antineutrophil antibody positivity Abnormality of joint mobility Overgrowth Biliary atresia Overweight Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Anal stenosis IgA deficiency Progressive joint destruction Prominent fingertip pads Increased hepatic glycogen content Broad thumb Leukemia Increased vertebral height Congenital hypothyroidism Spondylolysis Oligosacchariduria Recurrent aspiration pneumonia Synostosis of joints Abnormality of dental structure Palmoplantar keratoderma Cholangitis Optic nerve coloboma Retinal coloboma Small face Papule Broad philtrum Trichorrhexis nodosa Tremor Anterior plagiocephaly Carcinoma Downslanted palpebral fissures Nausea and vomiting Cerebral dysmyelination Synovial hypertrophy Short 5th finger Recurrent ear infections Depressed nasal tip Ureteropelvic junction obstruction Neoplasm Spinocerebellar tract disease in lower limbs Diaphragmatic eventration Bronchomalacia Mitral stenosis Flattened moderately deformed vertebrae Short columella Thoracolumbar kyphosis Abnormality of the middle ear Amblyopia Crossed fused renal ectopia Heart murmur Chronic otitis media Prominent supraorbital ridges Single ventricle Sclerosing cholangitis Widely spaced teeth Narrow palate Low anterior hairline Spastic gait Hallucinations Limb ataxia Tall stature Flat occiput Liver abscess Bowing of the long bones Progressive neurologic deterioration Depressed nasal ridge Psychosis Pancytopenia Type II diabetes mellitus Optic disc pallor Peripheral demyelination Hip dysplasia Prominent eyelashes Premature thelarche Eversion of lateral third of lower eyelids Anorectal anomaly Open bite Retinal thinning Reduced ejection fraction Long ear Abnormality of the gingiva Cranial hyperostosis Vacuolated lymphocytes Chronic diarrhea Abnormal echocardiogram Synovitis Abnormal cornea morphology Abnormality of the rib cage Craniofacial hyperostosis Spondylolisthesis Abnormality of the helix Dysostosis multiplex Bowel incontinence Impaired smooth pursuit Delusions Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Bronchitis Thickened calvaria Abnormality of the sternum Femoral bowing Neurodevelopmental delay Epibulbar dermoid Vertebral clefting Common atrium Telangiectasia Melanoma Exotropia Cryptorchidism Jaundice Micropenis Posteriorly rotated ears Abnormal heart morphology Visual loss Patent ductus arteriosus Clinodactyly Hypospadias Obesity Ventricular septal defect Wide nasal bridge Microcephaly Hydronephrosis Lobular carcinoma in situ Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Neoplasm of the thyroid gland Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Hypoglycemia Feeding difficulties in infancy Endometrial carcinoma Horseshoe kidney Abnormal vertebral morphology Long eyelashes Renal dysplasia Small nail Increased body weight Blue sclerae Coarctation of aorta Congenital diaphragmatic hernia Growth hormone deficiency Prominent nose Intestinal malrotation Hypodontia Hyperbilirubinemia Postnatal growth retardation Abnormal dermatoglyphics Single transverse palmar crease Abnormality of the urinary system Wide nose Anal atresia Abnormal cardiac septum morphology Coloboma Failure to thrive in infancy Brittle hair Paralysis Protruding ear Abnormality of the pinna Colorectal polyposis Follicular thyroid carcinoma Cerebellar vermis atrophy Celiac disease Renal cell carcinoma Hodgkin lymphoma Ovarian neoplasm Hamartoma Bundle branch block Right bundle branch block Acute myeloid leukemia Cellulitis Cystic hygroma Multiple lipomas Macule Cutis marmorata Hand polydactyly Papilledema Intracranial hemorrhage Dysdiadochokinesis Incoordination Sparse and thin eyebrow Hypopigmented skin patches Hemangioma Drooling Cranial nerve paralysis Neoplasm of the skin Long palpebral fissure Severe hearing impairment Transposition of the great arteries Lipoma Prolactin excess Intestinal polyp Anoperineal fistula Ovarian carcinoma Abnormality of the penis Adenoma sebaceum Decreased proportion of CD4-positive T cells Neoplasm of the central nervous system Generalized hyperkeratosis Precocious puberty Cupped ear Bilateral cryptorchidism Preauricular pit Hydroureter Fibroma Nocturnal lagophthalmos Megalencephaly Papilloma Enlarged polycystic ovaries Cavernous hemangioma Vertical orbital dystopia Pilonidal sinus Long penis Short nasal septum Bone cyst Intestinal polyposis Astrocytoma Abnormality of the uterus Arteriovenous malformation Multiple trichilemmomata Coarse hair Delayed myelination Arthrogryposis multiplex congenita Easy fatigability Poor head control EMG: myopathic abnormalities Microretrognathia Diplopia Decreased fetal movement Cyanosis Esotropia Generalized muscle weakness Distal amyotrophy Long face Ophthalmoplegia Difficulty walking Nasal speech Gastroesophageal reflux Polyhydramnios Hyporeflexia Dysphagia Hypopigmented skin patches on arms Arthralgia/arthritis Metaphyseal sclerosis Progressive spastic quadriplegia Madelung deformity Decrease in T cell count Tubulointerstitial fibrosis Spondylometaphyseal dysplasia Dysphonia Stridor Juvenile rheumatoid arthritis EEG with polyspike wave complexes Respiratory distress Acetylcholine receptor antibody positivity EMG: impaired neuromuscular transmission Episodic respiratory distress Frontalis muscle weakness Intermittent episodes of respiratory insufficiency due to muscle weakness Narrow jaw Choking episodes Apneic episodes precipitated by illness, fatigue, stress Nasal regurgitation Sudden episodic apnea Staring gaze Central sleep apnea Toe walking Spinal deformities Respiratory arrest Muscle fiber atrophy Motor polyneuropathy Distal lower limb muscle weakness Limb-girdle muscle weakness Obstructive sleep apnea Central hypotonia Neck muscle weakness Fatigable weakness Weak cry Spinal rigidity Bulbar palsy Immune dysregulation Narrow nose Glaucoma Abnormality of the thorax Generalized hypertrichosis Wrist flexion contracture Delayed closure of the anterior fontanelle Generalized osteoporosis Vertebral compression fractures Antinuclear antibody positivity Ankylosis Ankle contracture Hip contracture Arthropathy Narrow nasal bridge Abnormality of the ear Metaphyseal widening Broad metatarsal Osteolysis Knee flexion contracture Thickened skin Decreased body weight Split hand Interphalangeal joint contracture of finger Delayed eruption of teeth Small hand Proptosis Brachycephaly Diabetes mellitus Osteoporosis Flexion contracture Camptodactyly of toe Protrusio acetabuli Irregular vertebral endplates Sclerotic cranial sutures Recurrent sinusitis Basal ganglia calcification Scleroderma Spastic diplegia Metaphyseal irregularity Rheumatoid arthritis Systemic lupus erythematosus Spastic tetraplegia Hepatitis Cerebral calcification Tetraplegia Lymphadenopathy Distal tapering of metatarsals Contractures of the large joints Thin metatarsal cortices Peripheral opacification of the cornea Ankylosis of feet small joints Widened metacarpal shaft Interphalangeal joint erosions Osteolysis involving tarsal bones Thin metacarpal cortices Carpal osteolysis Metatarsal osteolysis Metacarpal osteolysis Severe generalized osteoporosis Finger swelling C1-C2 subluxation Polydactyly Apnea Progressive cerebellar ataxia Precocious atherosclerosis Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Dentinogenesis imperfecta Subvalvular aortic stenosis Cerebral ischemia Moyamoya phenomenon Villous atrophy Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Thoracic kyphosis Transient ischemic attack Protuberant abdomen Glomerulopathy Steatorrhea High pitched voice Emphysema Focal segmental glomerulosclerosis Abnormal immunoglobulin level Premature arteriosclerosis Epiphyseal dysplasia Prominent forehead Neurodegeneration Thick eyebrow Confusion Dysmetria Abnormality of the foot Hypermetropia Neurological speech impairment Mental deterioration Hepatosplenomegaly Umbilical hernia Mandibular prognathia Gait ataxia Babinski sign Anterior pituitary dysgenesis Delayed skeletal maturation Inguinal hernia Cerebral atrophy Splenomegaly Behavioral abnormality Intellectual disability, severe Ventriculomegaly Optic atrophy Dysarthria Hyperreflexia Hepatomegaly Lateral displacement of the femoral head Nephrosclerosis Glomerulonephritis Glomerulosclerosis Narrow chest Vestibular dysfunction Delayed pubic bone ossification Retinoschisis Limited hip movement Cervical myelopathy Flattened epiphysis Limited elbow movement Myelopathy Vitreoretinopathy Hypoplasia of the odontoid process Disproportionate short stature Progressive sensorineural hearing impairment Short thorax Back pain Neonatal short-trunk short stature Genu varum Growth abnormality Sleep apnea Coxa vara Abnormality of the metaphysis Osteoarthritis High myopia Limb undergrowth Limitation of joint mobility Retinal detachment Pulmonary hypoplasia Flat face Paresthesia Sciatica Limitation of knee mobility Chronic kidney disease Brain atrophy Reduced bone mineral density Azoospermia Hyperlipidemia Atherosclerosis Opacification of the corneal stroma Bone marrow hypocellularity Fine hair Intellectual disability, profound Nephrotic syndrome Decreased testicular size Premature birth Migraine Neutropenia Delayed calcaneal ossification Nephropathy Abnormality of skin pigmentation Stage 5 chronic kidney disease Stroke Scarring Developmental regression Proteinuria Thin upper lip vermilion Dementia Vomiting Cardiomyopathy Intrauterine growth retardation Fever Congenital mitral stenosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Behavioral abnormality, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more