Anemia, and Camptodactyly of finger

Diseases related with Anemia and Camptodactyly of finger

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


Top matches:

Low match MUCKLE-WELLS SYNDROME


Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).

MUCKLE-WELLS SYNDROME Is also known as neutrophilic urticaria

Related symptoms:

  • Short stature
  • Anemia
  • Hepatomegaly
  • Fever
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about MUCKLE-WELLS SYNDROME

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Low match BLAU SYNDROME


Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.

Related symptoms:

  • Cataract
  • Anemia
  • Hypertension
  • Fever
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about BLAU SYNDROME

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Other less relevant matches:

Low match KINDLER SYNDROME


Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.

KINDLER SYNDROME Is also known as poikiloderma, hereditary acrokeratotic|poikiloderma of kindler|poikiloderma, congenital, with bullae, weary type|bullous acrokeratotic poikiloderma of kindler and weary|ks

Related symptoms:

  • Anemia
  • Flexion contracture
  • Dysphagia
  • Syndactyly
  • Hyperkeratosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about KINDLER SYNDROME

Low 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

Low match ALG8-CDG


ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

ALG8-CDG Is also known as cdg-ih|congenital disorder of glycosylation type 1h|cdgih|carbohydrate deficient glycoprotein syndrome type ih|cdg1h|cdg syndrome type ih|cdg ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type ih

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG8-CDG

Low match STUVE-WIEDEMANN SYNDROME


Stuve-Wiedemann syndrome (STWS) is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, and respiratory and feeding distress usually resulting in early death (Dagoneau et al., 2004).See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1 ), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (OMIM ) on chromosome 1p36.

STUVE-WIEDEMANN SYNDROME Is also known as sws|schwartz-jampel syndrome, type 2|stws|stuve-wiedemann/schwartz-jampel type 2 syndrome|schwartz-jampel syndrome, neonatal|sjs2

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about STUVE-WIEDEMANN SYNDROME

Low match GALLOWAY-MOWAT SYNDROME


Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly, hiatal hernia, and nephrotic syndrome|scar5, formerly|galloway syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35

Low match H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Camptodactyly of finger

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Camptodactyly Uncommon - Between 30% and 50% cases
Fever Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Camptodactyly of finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Splenomegaly Global developmental delay Hepatomegaly Hypothyroidism Ichthyosis Abnormal facial shape Growth delay Recurrent infections Episcleritis Lymphadenopathy Abnormal cardiac septum morphology Hyperpigmentation of the skin Retinopathy Seizures Erythema Edema Dyspnea Failure to thrive Cataract Hernia Patent ductus arteriosus Intellectual disability Elbow flexion contracture Conjunctivitis Hypertelorism Arthralgia Skin rash Brachydactyly Epicanthus Intrauterine growth retardation Nephropathy Talipes equinovarus Clinodactyly Elevated erythrocyte sedimentation rate

Rare Symptoms - Less than 30% cases


Talipes Abnormality of dental enamel Recurrent fractures Decreased fetal movement Hypoalbuminemia Single transverse palmar crease Ascites Scoliosis Decreased testicular size Frontal bossing Muscular hypotonia Micrognathia Osteoporosis Myopia Low-set ears Aspiration Apnea Feeding difficulties Midface retrusion High palate Progressive microcephaly Esophagitis Macrotia Pulmonary hypoplasia Hypertriglyceridemia Panniculitis Mild microcephaly Flexion contracture of toe Cryptorchidism Microcytic anemia Ventricular septal defect Increased antibody level in blood Lipodystrophy Short neck Vomiting Long philtrum Hepatic failure Cardiomegaly Prominent nose Inability to walk Hepatosplenomegaly Hyperhidrosis Ptosis Thrombocytopenia Intellectual disability, mild Hearing impairment Wide nasal bridge Pain Aspiration pneumonia Telangiectasia Stiff skin Cerebellar hypoplasia Syndactyly Dysphagia Absent speech Hypertension Abnormality of the foot Visual loss Pneumonia Abnormality of the liver Hydrocephalus Papule Dry skin Limitation of joint mobility Pulmonary arterial hypertension Gastroesophageal reflux Erythema nodosum Abnormality of the kidney Episodic fever Hyperkeratosis Scarring Adducted thumb Optic atrophy Delayed speech and language development Ataxia Pes cavus Microcephaly Glaucoma Hypopigmentation of the skin Arthritis Delayed puberty Corneal opacity Opacification of the corneal stroma Nephrotic syndrome Hyperreflexia Ventriculomegaly Dilatation Adrenal hypoplasia Cerebellar atrophy Muscular hypotonia of the trunk Hypertonia Proteinuria EEG abnormality Abnormality of the dentition Cerebral cortical atrophy Dystonia Cerebral atrophy Hypoplasia of the corpus callosum Visual impairment Hiatus hernia Renal insufficiency Microphthalmia Abnormality of the eye Narrow forehead Irritability Postnatal microcephaly Hyperkinesis Lissencephaly Severe muscular hypotonia Chorea Brain atrophy Joint contracture of the hand Delayed myelination Premature birth Chronic kidney disease Heterotopia Pachygyria Small nail Hypsarrhythmia Spastic tetraplegia Hypotelorism Dandy-Walker malformation Sloping forehead Gliosis Glomerulosclerosis Wide mouth Severe global developmental delay Prominent nasal bridge Oligohydramnios Hypoplasia of the iris Proportionate short stature Abnormality of immune system physiology Congenital hypothyroidism Slender finger Abnormality of neuronal migration Hemiplegia/hemiparesis Tetraplegia Focal segmental glomerulosclerosis Flat occiput Hypoplasia of the brainstem Abnormality of eye movement Poor speech Arachnodactyly Hematuria Sleep disturbance Small for gestational age Projectile vomiting Tubular atrophy Gingival overgrowth Leukocytosis Hyperglycemia Stridor Psoriasiform dermatitis Sleep apnea Azoospermia Plagiocephaly Osteolysis Type I diabetes mellitus Hypergonadotropic hypogonadism Gynecomastia Bronchiectasis Lipoatrophy Primary amenorrhea Hypertrichosis Blue sclerae Epistaxis Epidermal acanthosis Bilateral sensorineural hearing impairment Mitral valve prolapse Overgrowth Amenorrhea Wide intermamillary distance Growth hormone deficiency Full cheeks Hallux valgus Scleroderma Flat face Abnormality of cardiovascular system physiology Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Snoring Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Chronic rhinitis Polycythemia Reticulocytopenia Histiocytosis Skin nodule Nasal obstruction Recurrent pharyngitis Decreased serum testosterone level Communicating hydrocephalus Varicose veins Abnormal eyebrow morphology Enlarged kidney Exocrine pancreatic insufficiency Severe sensorineural hearing impairment Polyneuropathy Cleft upper lip Diffuse cerebral atrophy Hypoplasia of the ear cartilage Neonatal hypotonia Thin upper lip vermilion Polyhydramnios Mandibular prognathia Narrow mouth Gait ataxia Rod-cone dystrophy Inguinal hernia Hypospadias Behavioral abnormality Thyroid dysgenesis Laryngospasm Encephalomalacia Dolichocephaly Albuminuria Congenital nephrotic syndrome Abnormality of the intervertebral disk Axial dystonia Diffuse mesangial sclerosis Diaphragmatic eventration Narrow nasal ridge Hand clenching Periorbital edema Abnormal renal physiology Spastic ataxia Aqueductal stenosis Protruding ear Hypermetropia Malabsorption Delayed skeletal maturation Hypotrichosis Pectus carinatum Low-set, posteriorly rotated ears Conductive hearing impairment Pes planus Proptosis Micropenis Diabetes mellitus Hypogonadism Posteriorly rotated ears Severe short stature Alopecia Abnormal heart morphology Toe syndactyly Atrial septal defect Anteverted nares Sensorineural hearing impairment Central hypothyroidism Spondyloepiphyseal dysplasia Cutaneous syndactyly Microretrognathia Dental crowding High myopia Febrile seizures Tapered finger Smooth philtrum Cognitive impairment Narrow face Spasticity Atrophic scars Atypical scarring of skin Abnormality of the skull Turricephaly Gingival bleeding Cutaneous finger syndactyly Fragile skin Aplasia/Hypoplasia of the skin Skin vesicle Colitis Milia Periodontitis Squamous cell carcinoma Inflammation of the large intestine Ectropion Abnormality of the hand Dermal atrophy Recurrent skin infections Palmoplantar hyperkeratosis Inflammatory abnormality of the skin Cutaneous photosensitivity Abnormality of the ribs Gingivitis Abnormal toenail morphology Abnormal blistering of the skin Abnormality of the anus Diffuse skin atrophy Overjet Symblepharon Severe photosensitivity Spotty hyperpigmentation Phimosis Spotty hypopigmentation Urethral stricture Laryngeal stenosis Eczematoid dermatitis Corneal erosion Overbite Esophageal stricture Cheilitis Premature loss of primary teeth Ankyloglossia Short 5th metacarpal Ridged nail Amniotic constriction ring Poikiloderma Short 4th metacarpal Eczema Palmoplantar keratoderma Telangiectases in sun-exposed and nonexposed skin Progressive sensorineural hearing impairment Facial palsy Photophobia Neoplasm Renal amyloidosis Hernia of the abdominal wall Recurrent aphthous stomatitis Abnormality of the nose Broad foot Uveitis Restrictive ventilatory defect Skin ulcer Abnormality of the voice Urticaria Abnormal palate morphology Cranial nerve paralysis Vasculitis Abnormality of the genital system Myalgia Abdominal pain Abnormality of metabolism/homeostasis Macrocephaly Stage 5 chronic kidney disease Aortic aneurysm Abnormality of skin pigmentation Polyarticular arthritis Carious teeth Nail dystrophy Pruritus Finger syndactyly Carcinoma Abnormal inflammatory response Retrobulbar optic neuritis Large vessel vasculitis Clear cell renal cell carcinoma Abnormal choroid morphology Keratitis Abnormal salivary gland morphology Iridocyclitis Posterior uveitis Synovitis Abnormality of the retinal vasculature Abnormality of the optic nerve Abnormal cranial nerve morphology Xerostomia Joint swelling Pericarditis Acral blistering Neoplasm of the urethra Strabismus Mask-like facies Short tibia Ulnar deviation of finger Impaired pain sensation Thin ribs Pathologic fracture Hypokinesia Tibial bowing Femoral bowing Flared metaphysis Myotonia Enlarged joints Cubitus valgus Congenital contracture Metaphyseal widening Patent foramen ovale Nasal speech Spastic paraparesis Aminoaciduria Knee flexion contracture Paraparesis Abnormal autonomic nervous system physiology Megaloblastic anemia Ulnar deviation of the hand Sensorimotor neuropathy Smooth tongue Nystagmus Metaphyseal rarefaction Pulmonary arterial medial hypertrophy Blotching pigmentation of the skin Abnormal metaphyseal trabeculation Absent patellar reflexes Broad ischia Shivering Increased upper to lower segment ratio Hypoplastic iliac body Wide nasal base Contracture of the proximal interphalangeal joint of the 5th finger Elevated pulmonary artery pressure Pursed lips Mitochondrial respiratory chain defects Square face Multiple skeletal anomalies Talipes valgus Thickened cortex of long bones Broad long bones Temperature instability Hoarse voice Short phalanx of finger Muscle weakness Glucose intolerance Generalized lipodystrophy Immune dysregulation Clubbing of fingers Abnormally large globe Myositis Rimmed vacuoles Basal ganglia calcification Hypermelanotic macule Long fingers Growth abnormality Finger swelling Lymphopenia Bone pain Thick lower lip vermilion Macroglossia Elevated hepatic transaminase Osteopenia Babinski sign Arrhythmia Congestive heart failure Skeletal muscle atrophy Hypochromic anemia Adipose tissue loss Bowing of the long bones Abnormality of the skeletal system Thin skin Short palpebral fissure Limb undergrowth Small hand Skeletal dysplasia Respiratory failure Malar flattening Short nose Respiratory distress Respiratory insufficiency Peripheral neuropathy Diarrhea Abnormal isoelectric focusing of serum transferrin Primary hypothyroidism Abnormality of the renal tubule Protein-losing enteropathy Tachypnea Abnormal intestine morphology Decreased liver function Lymphedema Large fontanelles Cholestasis Seborrheic keratosis



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