Arthritis, and Macrotia

Diseases related with Arthritis and Macrotia

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


Top matches:

Medium match EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2


Ehlers-Danlos syndrome classic-like-2 is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018).See {606408} for another classic-like EDS syndrome. For a discussion of the classification of EDS, see {130000}.

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism
  • Ptosis
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2

Medium match ACROMEGALY


Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALY

Medium match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1


This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

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Other less relevant matches:

Medium match TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1


Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal dominant (Momeni et al., 2000). TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.

TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 Is also known as trps i

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1

Medium match METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Medium match MELNICK-NEEDLES SYNDROME


Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.

MELNICK-NEEDLES SYNDROME Is also known as osteodysplasty of melnick and needles|melnick-needles osteodysplasty

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MELNICK-NEEDLES SYNDROME

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 HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Low match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Low match ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME


Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.

ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME Is also known as distal arthrogryposis with ophthalmoplegia|distal arthrogryposis type 5|oculomelic amyoplasia|distal arthrogryposis type iib

Related symptoms:

  • Ptosis
  • Visual impairment
  • Optic atrophy
  • Pectus excavatum
  • Inguinal hernia


SOURCES: ORPHANET MENDELIAN

More info about ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME

Top 5 symptoms//phenotypes associated to Arthritis and Macrotia

Symptoms // Phenotype % cases
Abnormality of the skeletal system Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Short stature Osteoarthritis Hearing impairment Osteopenia Hypertension Abnormal facial shape Pes planus Growth delay Generalized hypotonia Kyphosis Cataract Hip dislocation Nystagmus Seizures Mandibular prognathia Arthralgia Ptosis Muscle weakness Retinal degeneration Stroke Hernia Inguinal hernia Pectus excavatum Optic atrophy Macroglossia Strabismus Muscular hypotonia Recurrent respiratory infections Tall stature Motor delay Macrocephaly Global developmental delay Smooth philtrum Depressivity Mitral valve prolapse Respiratory tract infection Genu valgum Sensorineural hearing impairment Thrombocytopenia Recurrent infections Hypertelorism Growth hormone deficiency Congestive heart failure Narrow palate Kyphoscoliosis Skeletal muscle atrophy Prominent forehead Visual impairment Malar flattening Delayed eruption of teeth Frontal bossing Abnormality of the dentition Ataxia

Rare Symptoms - Less than 30% cases


Delayed puberty Intellectual disability, severe Small face Craniofacial hyperostosis Long fingers Reduced visual acuity Dementia Lipodystrophy Joint stiffness Gait ataxia Hydrocephalus Hypertriglyceridemia Cardiomegaly Prominent nose Cardiomyopathy Hypoplastic facial bones High forehead Osteolytic defects of the phalanges of the hand Osteoporosis Misalignment of teeth Proptosis Bowing of the long bones Hypotrichosis Carious teeth Short metacarpal Dental malocclusion Intracranial hemorrhage Retrognathia Sparse hair Short metatarsal Skeletal dysplasia Conductive hearing impairment Thin nail Spondylolisthesis Joint hyperflexibility Pectus carinatum Protruding ear Respiratory insufficiency Feeding difficulties in infancy Short clavicles Gait disturbance Convex nasal ridge Talipes equinovarus Scarring Arachnodactyly Cryptorchidism Coxa valga Dysarthria Prominent supraorbital ridges Delayed skeletal maturation Alopecia Microcephaly Hypogonadism Thin upper lip vermilion Mental deterioration Edema Hepatosplenomegaly Broad forehead Widely spaced teeth Babinski sign Pigmentary retinopathy Hoarse voice Otitis media Pancytopenia Thick lower lip vermilion Psychosis Full cheeks Tapered finger Pulmonary arterial hypertension Long face Paresthesia Synophrys Hypertrophic cardiomyopathy Growth abnormality Gingival overgrowth Heart murmur Aplasia/Hypoplasia of the earlobes Disproportionate tall stature Low anterior hairline Thoracic scoliosis Thin eyebrow Atherosclerosis Anxiety Abnormality of retinal pigmentation Neoplasm Broad-based gait Hyperhidrosis Diabetes mellitus Coarse facial features Aciduria Acanthosis nigricans Depressed nasal bridge Short neck Anemia Flexion contracture Hepatomegaly Highly arched eyebrow Retinopathy Myopia Confusion Narrow chest Behavioral abnormality Abnormality of skin pigmentation Joint hypermobility Midface retrusion Intellectual disability, mild Neurological speech impairment Hepatic steatosis Splenomegaly Hypermetropia Neutropenia Thick eyebrow Down-sloping shoulders Nasal speech Hyperphosphatemia Fragile nails Abnormality of the thorax Transient ischemic attack Multiple joint contractures Absent eyelashes Renal cell carcinoma Abnormal EKG High pitched voice Hyperinsulinemia Premature graying of hair Metaphyseal widening Prolonged QT interval Exertional dyspnea Lipoatrophy Scleroderma Thin ribs Keratoconjunctivitis sicca Thrombocytosis Premature ovarian insufficiency Hypoplastic nipples Alopecia of scalp Dermal atrophy Chest pain Relative macrocephaly Synostosis of joints Vacuolated lymphocytes Cranial hyperostosis Abnormality of the gingiva Long ear Retinal thinning Cerebral dysmyelination Oligosacchariduria Abnormal echocardiogram Spondylolysis Increased vertebral height Increased hepatic glycogen content Generalized abnormality of skin Decreased pulmonary function Hypoplastic inferior ilia Thoracolumbar kyphosis Synovitis Abnormality of joint mobility Severe sensorineural hearing impairment Femoral bowing Abnormality of the sternum Thickened calvaria Bronchitis Limb dystonia Aseptic necrosis Patellar dislocation Abnormal cornea morphology Delusions Impaired smooth pursuit Dysostosis multiplex Hydrocele testis Reduced ejection fraction Abnormality of the helix Abnormality of the rib cage Abnormality of the ilium Antineutrophil antibody positivity Hypercholesterolemia Sparse and thin eyebrow Thin skin Decreased body weight Left ventricular hypertrophy Dental crowding Hypohidrosis Insulin resistance Aortic valve stenosis Abnormality of the cardiovascular system Aspiration Increased bone mineral density Hypergonadotropic hypogonadism Hypogonadotrophic hypogonadism Aminoaciduria Osteolysis Hyperlipidemia Myocardial infarction Cyanosis Abnormality of dental structure Dyspnea Progressive joint destruction Synovial hypertrophy Flattened moderately deformed vertebrae Spinocerebellar tract disease in lower limbs Short nose Narrow mouth Carcinoma Nail dysplasia Microtia Dilated cardiomyopathy Infertility Thin vermilion border Hypodontia Prominent superficial veins Limitation of joint mobility Ovoid vertebral bodies Bilateral coxa valga Angina pectoris Abnormality of the hip bone Rheumatoid arthritis Cubitus valgus Constriction of peripheral visual field Abnormality of dental morphology Cerebral hemorrhage Truncal obesity Narrow nasal bridge Failure to thrive in infancy Celiac disease Weak cry Subcapsular cataract Peripheral visual field loss Hiatus hernia Posterior subcapsular cataract Deviation of finger Radioulnar synostosis Microglossia Progressive microcephaly High myopia Lumbar hyperlordosis Open mouth Clumsiness Long eyelashes Exotropia Preauricular skin tag Precocious puberty Intellectual disability, progressive Sandal gap Leukopenia Venous thrombosis Recurrent skin infections Laryngomalacia Reduced number of teeth Gingivitis Vocal cord paralysis Narrow forehead Macrodontia of permanent maxillary central incisor Narrow philtrum Chorioretinal dysplasia Bilateral talipes equinovarus High-pitched cry Thick corpus callosum Prominent eyelashes Childhood-onset truncal obesity Hemeralopia Hypoplastic philtrum Cat cry Slender toe Deeply set eye Ophthalmoplegia Triangular face Abnormal electroretinogram Narrow palm Cutis gyrata of scalp Facial hypotonia Tapetoretinal degeneration Deep venous thrombosis Furrowed tongue Macular edema Bone spicule pigmentation of the retina Abnormality of the larynx Recurrent aphthous stomatitis Thick hair Chorioretinal dystrophy Iris atrophy Macrodontia Bull's eye maculopathy Granulocytopenia Congenital neutropenia Hyperplasia of the maxilla Laryngeal stenosis Decreased fetal movement Progressive visual loss Lack of skin elasticity Narrow nasal tip Mitral valve calcification Bird-like facies Prominent scalp veins Reticulated skin pigmentation Old-aged sensorineural hearing impairment Craniofacial disproportion Carotid artery stenosis Widely patent fontanelles and sutures Congenital finger flexion contractures Bowel incontinence Absence of pubertal development Insulin-resistant diabetes mellitus at puberty Abnormal trabecular bone morphology Regional abnormality of skin Arteriosclerosis of small cerebral arteries Parietal bossing Intermittent claudication High palate Carcinoid tumor Generalized osteoporosis Precocious atherosclerosis Enlarged joints Thin bony cortex Decreased serum estradiol Prolonged prothrombin time Arteriosclerosis Corneal arcus Narrow nasal ridge Aplastic clavicle Hip pain Absence of subcutaneous fat Premature coronary artery atherosclerosis Decreased testosterone in males Sinus tachycardia Tapering pointed ends of distal finger phalanges Intrauterine growth retardation Hypoplasia of the maxilla Dimple chin Short philtrum Prominent nasal bridge Small for gestational age Finger syndactyly Severe global developmental delay Astigmatism Iris coloboma Wide mouth Retinal dystrophy Thick vermilion border High, narrow palate Small hand Retinal detachment Single transverse palmar crease Microcornea Nyctalopia Paralysis Downslanted palpebral fissures Visual loss Ventricular septal defect Respiratory distress Blindness Microphthalmia Dilatation Obesity Clinodactyly of the 5th finger Postnatal growth retardation Cerebellar hypoplasia Rod-cone dystrophy Hypothyroidism Gastroesophageal reflux Neonatal hypotonia Joint laxity Intellectual disability, moderate Neurodevelopmental delay Delayed cranial suture closure Open bite Hypochromic anemia Paraplegia Spastic paraplegia Hyperlordosis Low-set, posteriorly rotated ears Posteriorly rotated ears Long philtrum Brachydactyly Adipose tissue loss Finger swelling Stiff skin Episcleritis Panniculitis Erythema nodosum Flexion contracture of toe Microdontia Generalized lipodystrophy Immune dysregulation Clubbing of fingers Abnormally large globe Myositis Rimmed vacuoles Basal ganglia calcification Microcytic anemia Elevated erythrocyte sedimentation rate Hypermelanotic macule Increased antibody level in blood Glucose intolerance Conjunctivitis Bulbous nose Fine hair Lymphopenia Cone-shaped epiphyses of the middle phalanges of the hand Weight loss Cerebral cortical atrophy Renal insufficiency Tremor Feeding difficulties Low-set ears Ivory epiphyses of the distal phalanges of the hand Swelling of proximal interphalangeal joints Cone-shaped epiphyses of the proximal phalanges of the hand Chin with horizontal crease Accelerated bone age after puberty Coxa magna Abnormally low-pitched voice Pear-shaped nose Sparse scalp hair Flat capital femoral epiphysis Pseudohypoparathyroidism Leukonychia Concave nail Spastic ataxia Slow-growing hair Avascular necrosis of the capital femoral epiphysis Sparse lateral eyebrow Progressive spastic paraplegia Short finger Cone-shaped epiphysis Deep philtrum Infantile muscular hypotonia Scapular winging Elbow flexion contracture Bone pain Difficulty walking Ventral hernia Impotence Large hands Acne Sleep apnea Cerebral palsy Abnormality of the fingernails Generalized hirsutism Thickened skin Mitral regurgitation Migraine Wide nose Fatigue Bursitis Shoulder dislocation Spinal canal stenosis Squared iliac bones Knee dislocation Abnormality of the vasculature Atrophic scars Hallux valgus Bilateral ptosis Redundant skin Hyperextensible skin Cutis laxa Low posterior hairline Webbed neck Bruising susceptibility Papule Generalized hyperpigmentation Palpebral edema Hyperpigmentation of the skin Dysmenorrhea Inability to walk Lymphadenopathy Skin rash Camptodactyly of finger Abnormality of the liver Erythema Elevated hepatic transaminase Arrhythmia Fever Cortical diaphyseal thickening of the upper limbs Abnormality of reproductive system physiology Broad jaw Macrodactyly Pituitary prolactin cell adenoma Joint swelling Deep plantar creases Galactorrhea Hypersomnia Paraganglioma Long penis Pheochromocytoma Anterior hypopituitarism Deep palmar crease Neoplasm of the endocrine system Dysuria Abnormality of the endocrine system Abnormal toenail morphology Broad foot Growth hormone excess Acidosis Proteinuria Bowing of the legs Ureteral stenosis Delayed speech and language development Cognitive impairment Spasticity Anterior concavity of thoracic vertebrae Obtuse angle of mandible Ureteral obstruction Anisospondyly Abnormality of the pubic bone Frontal hirsutism Megacystis Urethral atresia Long neck Prune belly Tricuspid valve prolapse Hyperreflexia Sclerosis of skull base Complete atrioventricular canal defect Abnormal cortical bone morphology Hypoplastic pelvis Hypoplastic scapulae Cone-shaped epiphyses of the phalanges of the hand Short humerus Atrioventricular canal defect Tibial bowing Limited elbow extension Short thorax Thoracic hypoplasia Ectopic kidney Epicanthus Ventriculomegaly Melanocytic nevus Peripheral demyelination Flat occiput Chronic otitis media Increased intracranial pressure Recurrent bacterial infections Spastic gait Hallucinations Limb ataxia Amblyopia Progressive neurologic deterioration Hypertrichosis Depressed nasal ridge Type II diabetes mellitus Optic disc pallor Hip dysplasia Myopathy Decreased antibody level in blood Delayed myelination Gliosis Progressive cerebellar ataxia Neurodegeneration Dysmetria Abnormality of the foot Abnormality of the cerebral white matter Corneal opacity Umbilical hernia Areflexia Cerebral atrophy Immunodeficiency Cerebellar atrophy Flared metaphysis Coarse hair Lethargy Ectopia lentis Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Hemolytic-uremic syndrome Right ventricular failure Gastritis Myelopathy Homocystinuria Methylmalonic aciduria Cor pulmonale Megaloblastic anemia Thromboembolism Apathy Hemiplegia Delirium Slurred speech Anorexia Recurrent urinary tract infections Abnormality of extrapyramidal motor function Memory impairment Urinary incontinence Metabolic acidosis Hematuria Nephropathy Hemolytic anemia Unsteady gait Lower limb muscle weakness Malabsorption Congenital cataract Abnormality of macular pigmentation Urogenital fistula Wide anterior fontanel Abnormal cardiac septum morphology Omphalocele Abnormality of the metaphysis Recurrent otitis media Renal hypoplasia Abnormality of the ribs Oligohydramnios Tetralogy of Fallot Intestinal malrotation Vesicoureteral reflux Nevus Short distal phalanx of finger Facial asymmetry Pulmonic stenosis Hydronephrosis Decreased methylcobalamin Pneumonia Abnormal heart morphology Atrial septal defect Cleft palate Thyroglossal cyst Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Absent palmar crease



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