Anemia, and Arachnodactyly

Diseases related with Anemia and Arachnodactyly

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


Top matches:

Medium match NAKAJO-NISHIMURA SYNDROME


Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

Medium match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1


Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Medium match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

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Other less relevant matches:

Medium match X-LINKED CENTRONUCLEAR MYOPATHY


X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

X-LINKED CENTRONUCLEAR MYOPATHY Is also known as x-linked myotubular myopathy|myotubular myopathy, x-linked|myotubular myopathy 1|xlmtm|mtmx|xlcnm|mtm1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CENTRONUCLEAR MYOPATHY

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 METHYLCOBALAMIN DEFICIENCY TYPE CBLG


Homocystinuria and megaloblastic anemia is an autosomal recessive inborn error of metabolism resulting from defects in the cobalamin (vitamin B12)-dependent pathway that converts homocysteine to methionine, which is catalyzed by methionine synthase. Clinical features are somewhat variable, but include delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia, all of which respond to cobalamin supplementation. Methylmalonic aciduria is not present. Two complementation groups have been described based on fibroblast studies: CblE (OMIM ) and CblG (Watkins and Rosenblatt, 1988). Most patients present in early infancy, but some patients with CblG have shown later onset (Outteryck et al., 2012). Cells from patients with CblE fail to incorporate methyltetrahydrofolate into methionine in whole cells, but cell extracts show normal methionine synthase activity in the presence of a reducing agent. Cells from patients with CblG have defects in the methionine synthase enzyme under both conditions (summary by Leclerc et al., 1996).CblE is caused by mutation in the MTRR gene (OMIM ).Watkins and Rosenblatt (1989) commented on the clinical and biochemical heterogeneity in patients with cblE and cblG.

METHYLCOBALAMIN DEFICIENCY TYPE CBLG Is also known as functional methionine synthase deficiency type cblg|methylcobalamin deficiency, cblg type|homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblg complementation type|methionine synthase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about METHYLCOBALAMIN DEFICIENCY TYPE CBLG

Low match ACUTE INFANTILE LIVER FAILURE-MULTISYSTEMIC INVOLVEMENT SYNDROME


Acute infantile liver failure-multisystemic involvement syndrome is a rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-MULTISYSTEMIC INVOLVEMENT SYNDROME

Low match CRONKHITE-CANADA SYNDROME


Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CRONKHITE-CANADA SYNDROME

Low match DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME


Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

Low match CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME


Craniofacial dysplasia-osteopenia syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized by craniofacial dysmorphism (incl. brachycephaly, prominent forehead, sparse lateral eyebrows, severe hypertelorism, upslanting palpebral fissures, epicanthal folds, protruding ears, broad nasal bridge, pointed nasal tip, flat philtrum, anteverted nostrils, large mouth, thin upper vermilion border, highly arched palate and mild micrognathia) associated with osteopenia leading to repeated long bone fractures, severe myopia, mild to moderate sensorineural or mixed hearing loss, enamel hypoplasia, sloping shoulders and mild intellectual disability.

CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME Is also known as hypertelorism, severe, with midface prominence, myopia, mental retardation, and bone fragility|hamamy syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Cryptorchidism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRANIOFACIAL DYSPLASIA-OSTEOPENIA SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Arachnodactyly

Symptoms // Phenotype % cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Sensorineural hearing impairment Microcephaly Ptosis Splenomegaly Vomiting High palate Generalized hypotonia Hypertelorism Abnormal facial shape Cryptorchidism Respiratory failure Respiratory distress Recurrent respiratory infections Fatigue Feeding difficulties Flexion contracture Lymphedema Diarrhea Microcytic anemia Muscle weakness Micrognathia Tapered finger Edema Respiratory insufficiency

Rare Symptoms - Less than 30% cases


Pain Gait disturbance Macrocephaly Myopia Macrocytic anemia Long toe Muscular hypotonia Neoplasm Weight loss Abnormality of the fingernails Low posterior hairline Talipes equinovarus Hepatitis Elevated hepatic transaminase High forehead Thrombocytopenia Recurrent infections Syndactyly Visual impairment Delayed speech and language development Webbed neck Dysphagia Low-set ears Epicanthus EEG abnormality Cataract Nystagmus Ataxia Short stature Diaphragmatic eventration Long fingers Cerebellar atrophy Hypertonia Renal insufficiency Cerebral atrophy Wide mouth Failure to thrive Severe global developmental delay Hematuria Hypotelorism Severe muscular hypotonia Hypoalbuminemia Hip dysplasia Dental malocclusion Inability to walk Slender finger Midface retrusion Hydrocephalus Spasticity Lymphadenopathy Hypertension Skin rash Full cheeks Fever Hemolytic anemia Increased antibody level in blood Congestive heart failure Elevated erythrocyte sedimentation rate Arthralgia Prominent nose Hypothyroidism Macrotia Clubbing of fingers Inguinal hernia Intellectual disability, mild Pectus excavatum Dilatation Oligohydramnios Arrhythmia Hernia Abnormality of the face Skeletal muscle atrophy Peripheral neuropathy Blindness Tremor Projectile vomiting Joint stiffness Growth delay Jaundice Thyroid dysgenesis Laryngospasm Hypoplasia of the ear cartilage Encephalomalacia Pes planus Paraparesis Feeding difficulties in infancy Megaloblastic anemia Hypomethioninemia Decreased methionine synthase activity Decreased methylcobalamin Hyperhomocystinemia Hemolytic-uremic syndrome Rotary nystagmus Homocystinuria Methylmalonic aciduria Poor coordination Lethargy Optic neuropathy Leukoencephalopathy Congenital nephrotic syndrome Eczema Generalized-onset seizure Aciduria Neutropenia Unsteady gait Albuminuria Narrow nasal ridge Abnormality of the intervertebral disk Heterotopia Chronic kidney disease Adducted thumb Hyperkinesis Lissencephaly Opacification of the corneal stroma Aspiration Joint contracture of the hand Progressive microcephaly Postnatal microcephaly Pachygyria Hypoplasia of the brainstem Small nail Hypsarrhythmia Spastic tetraplegia Nephrotic syndrome Arthrogryposis multiplex congenita Narrow forehead Sloping forehead Dandy-Walker malformation Premature birth Delayed myelination Glomerulosclerosis Flat occiput Axial dystonia Esophagitis Diffuse mesangial sclerosis Abnormality of the liver Hand clenching Periorbital edema Abnormal renal physiology Spastic ataxia Aqueductal stenosis Diffuse cerebral atrophy Tubular atrophy Mild microcephaly Focal segmental glomerulosclerosis Aspiration pneumonia Adrenal hypoplasia Hiatus hernia Hypoplasia of the iris Proportionate short stature Abnormality of immune system physiology Congenital hypothyroidism Abnormal pyramidal sign Abnormality of neuronal migration Hemiplegia/hemiparesis Frontal bossing Hyperhidrosis Lactic acidosis Leukocytosis Myeloproliferative disorder Abnormality of the optic nerve Verrucae Hypercoagulability Acute leukemia Acute myeloid leukemia Myeloid leukemia Cellulitis Prolonged bleeding time Chronic otitis media Erysipelas Myelodysplasia Intracranial hemorrhage Leukopenia Bone marrow hypocellularity Pancytopenia Migraine Bruising susceptibility Cirrhosis Vertigo Granulocytopenia Macronodular cirrhosis Neurological speech impairment Hypodontia Hypochromic anemia Moderate global developmental delay Sparse lateral eyebrow Down-sloping shoulders Hypoparathyroidism Preauricular skin tag Hypoplasia of dental enamel Mitral regurgitation High myopia Smooth philtrum Abnormal neutrophil count Craniosynostosis Developmental regression Osteopenia Brachycephaly Upslanted palpebral fissure Clinodactyly Long philtrum Atrial septal defect Anteverted nares Wide nasal bridge Nausea and vomiting Leukemia Hepatic failure Paresthesia Clubbing Hypokalemia Cachexia Abnormal intestine morphology Hypocalcemia Hyperpigmentation of the skin Anorexia Nail dysplasia Abnormality of skin pigmentation Malabsorption Aplasia/Hypoplasia of the eyebrow Nail dystrophy Autoimmunity Abdominal pain Alopecia Brain atrophy Acute hepatic failure Abnormality of the coagulation cascade Delayed gross motor development Hepatic steatosis Hypoplastic toenails Colon cancer Scarring Stomach cancer Pallor Visual loss Immunodeficiency Decreased taste sensation Gastrointestinal carcinoma Glossitis Patchy alopecia Peripheral edema Hamartomatous polyposis Protein-losing enteropathy Sparse body hair Intestinal polyposis Dystrophic fingernails Furrowed tongue Dystrophic toenail Hematochezia Hypomagnesemia Abnormality of the vasculature Xerostomia Thromboembolism Generalized hyperpigmentation Limitation of joint mobility Pulmonary artery stenosis Chorea Recurrent pneumonia Abnormality of the immune system Aplasia/Hypoplasia of the skin Abnormality of the hip bone Petechiae Osteomyelitis Psoriasiform dermatitis Systemic lupus erythematosus Reduced bone mineral density Generalized hirsutism Bilateral single transverse palmar creases Hypoplasia of the zygomatic bone Low anterior hairline Skin ulcer Congenital diaphragmatic hernia Abnormality of retinal pigmentation Abnormal lung morphology Thin skin Inflammatory abnormality of the skin Depressed nasal ridge Cutaneous photosensitivity Prolonged neonatal jaundice Chronic lung disease Recurrent urinary tract infections Recurrent fractures Mandibular prognathia Areflexia Myopathy Osteoporosis Umbilical hernia Joint laxity Hip dislocation Pulmonic stenosis Joint hyperflexibility Scoliosis Concave nasal ridge Vesicoureteral reflux Overgrowth Recurrent cystitis Diffuse telangiectasia Crusting erythematous dermatitis Facial hirsutism Poliosis Abnormality of the middle ear White forelock Bilateral sensorineural hearing impairment Dehydration Polyhydramnios Arterial fibromuscular dysplasia Downslanted palpebral fissures Depressed nasal bridge Emphysema Delayed cranial suture closure Progressive sensorineural hearing impairment Prematurely aged appearance Shawl scrotum Renal diverticulum Bowel diverticulosis Supravalvular aortic stenosis Epiphyseal dysplasia Congenital hemolytic anemia Vascular tortuosity Dermal translucency Ascending tubular aorta aneurysm Arterial stenosis Ileus Bladder diverticulum Cor pulmonale Atelectasis Intellectual disability, severe Aortic aneurysm Convex nasal ridge Wormian bones Asthma Palmoplantar keratoderma Hirsutism Dry skin Genu valgum Carious teeth Pruritus Papule Erythema Hepatosplenomegaly Short nose Cutis laxa Proptosis Hyperkeratosis Prominent forehead Obesity Shock Abnormality of metabolism/homeostasis Redundant skin Malar flattening Dyspnea Kyphoscoliosis Gliosis Lipodystrophy Pes cavus Cerebellar hypoplasia Pneumonia Absent speech Thick lower lip vermilion Microphthalmia Dystonia Abnormality of the dentition Subcutaneous nodule Hyperostosis Gastroesophageal reflux Hypoplasia of the corpus callosum Ventriculomegaly Optic atrophy Intrauterine growth retardation Hyperreflexia Right bundle branch block Cognitive impairment Lipoatrophy Strabismus Cerebral cortical atrophy Cardiomegaly Erythema nodosum Abnormality of the foot Tetraplegia Ascites Hypopigmentation of the skin Sleep disturbance Nephropathy Premature skin wrinkling Talipes Poor speech Abnormality of eye movement Macroglossia Proteinuria Small for gestational age Prominent nasal bridge Camptodactyly of finger Retinopathy Irritability Abnormality of the eye Abnormality of the kidney Camptodactyly Muscular hypotonia of the trunk Episodic fever Hepatic hemangioma Facial palsy Waddling gait External ophthalmoplegia Accelerated skeletal maturation Nephrocalcinosis EMG abnormality Narrow face Decreased liver function Progressive muscle weakness Nephrolithiasis Decreased fetal movement Abnormal bleeding Hemangioma Generalized muscle weakness Hypospadias Long face Lower limb muscle weakness Limb muscle weakness Ophthalmoplegia Dolichocephaly Paralysis Apnea Sleep apnea Atrioventricular block Respiratory failure requiring assisted ventilation Facial diplegia Birth length greater than 97th percentile Slender toe Premature adrenarche Nocturnal hypoventilation Fractures of the long bones Cavernous hemangioma Clubbing of toes Spherocytosis Head tremor Hypoventilation Cholelithiasis Neck muscle weakness Centrally nucleated skeletal muscle fibers Weak cry Hypokinesia Abnormality of the Leydig cells Mask-like facies Neonatal respiratory distress Myotonia Ophthalmoparesis Pyloric stenosis Short 2nd finger



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