Anemia, and High myopia

Diseases related with Anemia and High myopia

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


Top matches:

Medium match SHWACHMAN-DIAMOND SYNDROME 2; SDS2


Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017).For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME 2; SDS2

Medium match MUCOLIPIDOSIS IV; ML4


Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder results from a defect in transport along the lysosomal pathway, affecting membrane sorting and/or late steps of endocytosis, which causes intracellular accumulation of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has been made are Ashkenazi Jews, including severely affected and mildly affected patients (Chen et al., 1998).

MUCOLIPIDOSIS IV; ML4 Is also known as ml iv|sialolipidosis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOLIPIDOSIS IV; ML4

Medium match AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME


Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. Patients with autosomal dominant KCS type 2 have normal intelligence (Kenny and Linarelli, 1966; Caffey, 1967; summary by Isojima et al., 2014).See KCS1 (OMIM ) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome.

AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME Is also known as kenny syndrome|dwarfism, cortical thickening of tubular bones, and transient hypocalcemia

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME

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Other less relevant matches:

Medium match HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC


HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

Medium 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

Medium 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 CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Low match RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Anemia


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM

Low match PROTEUS SYNDROME


Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66; EIEE66

Top 5 symptoms//phenotypes associated to Anemia and High myopia

Symptoms // Phenotype % cases
Myopia Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Microcephaly Hearing impairment Cryptorchidism Wide nasal bridge Strabismus Cataract Intrauterine growth retardation Syndactyly Nystagmus Growth delay Short stature Low-set ears Macrocephaly Visual impairment Optic atrophy Fever Thin upper lip vermilion Behavioral abnormality Inguinal hernia Clinodactyly Delayed speech and language development Micrognathia Scoliosis Tapered finger Downslanted palpebral fissures Clinodactyly of the 5th finger Anteverted nares Long philtrum Craniosynostosis Hypermetropia Webbed neck High palate Ataxia Neutropenia Failure to thrive

Rare Symptoms - Less than 30% cases


Papilledema Cleft palate Neoplasm Ptosis Depressed nasal bridge Anisocytosis Abnormality of skin pigmentation Headache Hypoparathyroidism Proptosis Glaucoma Abnormality of cardiovascular system morphology Decreased testicular size Carious teeth Congenital cataract Small for gestational age Postnatal growth retardation Prominent forehead Severe short stature Delayed skeletal maturation Short neck Joint stiffness Macrotia Atrial septal defect Low posterior hairline Constipation Thrombocytopenia Respiratory tract infection Smooth philtrum Wide mouth Brachycephaly Recurrent infections Hernia Hypospadias Sensorineural hearing impairment Edema Narrow mouth Mandibular prognathia Microcytic anemia Gastroesophageal reflux Feeding difficulties Camptodactyly Abnormal cardiac septum morphology Dolichocephaly Toe syndactyly Single transverse palmar crease Pallor Autism Autistic behavior Hyperreflexia Iron deficiency anemia Renal cyst Increased serum ferritin Developmental regression Photophobia Skeletal dysplasia Downturned corners of mouth Absent speech Aspiration Astigmatism Hip dislocation Synophrys Photoreceptor layer loss on macular OCT Esophagitis Pain Aspiration pneumonia Hiatus hernia Hypoplastic labia majora Immunodeficiency Poor appetite Ectrodactyly Splenomegaly Oligodactyly Kyphosis Confusion Hypoplastic nipples Facial asymmetry Dislocated radial head Finger syndactyly Cutis marmorata Limited elbow extension Short middle phalanx of finger 2-3 toe syndactyly Intellectual disability, moderate Ectopic kidney Delayed ability to walk Tricuspid regurgitation Opisthotonus Clubbing Visual loss Carcinoma Kyphoscoliosis Proximal placement of thumb Ring scotoma Abdominal pain Abnormality of digit Weak cry Hyperkeratosis Decreased mean corpuscular volume Abnormality of the gastrointestinal tract Duplication of internal organs Short sternum Polymicrogyria Perimembranous ventricular septal defect Reduced renal corticomedullary differentiation Otitis media with effusion Hand oligodactyly Malrotation of colon Phocomelia Abnormality of the umbilicus Projectile vomiting Supernumerary ribs Gastroparesis Left-to-right shunt Absent hand Hypertropia Curly eyelashes Hypoplastic male external genitalia Peters anomaly Hypoplastic radial head Decreased serum iron Juvenile rheumatoid arthritis Epiretinal membrane Esophageal stenosis Optic nerve coloboma Elliptocytosis Retinal pigment epithelial atrophy Thick upper lip vermilion Poikilocytosis Recurrent hypoglycemia Macular edema Dysplastic tricuspid valve Retinal atrophy Rheumatoid arthritis Optic disc pallor Volvulus Nyctalopia Arthritis Panhypopituitarism Depressivity Long face Cerebral visual impairment Abdominal distention Meningioma Myofibrillar myopathy Buphthalmos Arterial thrombosis Hemihypertrophy Abnormality of the neck Lower limb asymmetry Arteriovenous malformation Varicose veins Deep venous thrombosis Retinal nonattachment Abnormal subcutaneous fat tissue distribution Neoplasm of the thymus Long penis Central heterochromia Macroorchidism Abnormality of the wrist Connective tissue nevi Abnormality of finger Spinal cord compression Capillary hemangioma Exostoses Lipoma Neoplasm of the lung Abnormal lung lobation Thin bony cortex Visceral angiomatosis Spinal canal stenosis Lymphangioma Thymus hyperplasia Facial hyperostosis Retinal hamartoma Bronchogenic cyst Narrow internal auditory canal Sirenomelia Macrodactyly Portal vein thrombosis Calvarial hyperostosis Metatarsus valgus Epidermal nevus Testicular neoplasm Thick nasal alae Upper limb asymmetry Keloids Nephrogenic diabetes insipidus Epibulbar dermoid Venous malformation Neoplasm of the central nervous system Generalized hyperkeratosis Thrombophlebitis Vascular skin abnormality Asymmetry of the thorax Asymmetric growth Enlarged polycystic ovaries Irregular hyperpigmentation Pulmonary embolism Sudden cardiac death Status epilepticus Abnormality of dental enamel Generalized hirsutism Abnormality of the nail Lymphopenia Abnormal vertebral morphology Sinusitis Lymphedema Abnormality of retinal pigmentation Thickened skin Subcutaneous nodule Hypsarrhythmia Broad-based gait Hemangioma Heterotopia Nevus sebaceous Obsessive-compulsive behavior Abnormal form of the vertebral bodies Open mouth Epidermal acanthosis Overgrowth Decreased antibody level in blood Round face Nevus Gliosis Venous thrombosis Pyloric stenosis Generalized hyperpigmentation Melanocytic nevus Ovarian neoplasm Hamartoma Multiple cafe-au-lait spots Multiple lipomas Neurofibromas Pericardial effusion Disproportionate tall stature Hallux valgus Decreased muscle mass Diabetes insipidus Hyperostosis Chorioretinal coloboma Abnormality of the metacarpal bones Lipodystrophy Cachexia Growth abnormality Reduced number of teeth Depigmentation/hyperpigmentation of skin Hypertrophy of skin of soles Mandibular hyperostosis Generalized tonic-clonic seizures Generalized myoclonic seizures Epileptic encephalopathy Palmoplantar hyperkeratosis Goiter Self-injurious behavior Conductive hearing impairment Short metatarsal Infertility Hyperphosphatemia Proportionate short stature Basal ganglia calcification High hypermetropia Delayed cranial suture closure High pitched voice Hypocalcemia Increased bone mineral density Small nail Abnormality of the liver Tetany Microphthalmia Flexion contracture Abnormality of ganglioside metabolism Truncal titubation Abnormality of mucopolysaccharide metabolism Oligosacchariduria Progressive psychomotor deterioration Hoarse cry Dysplastic corpus callosum Decreased skull ossification Delayed closure of the anterior fontanelle Esodeviation Transient hypophosphatemia Abnormality of the fingernails Bilateral single transverse palmar creases Hypoplasia of penis Convex nasal ridge Anal atresia Severe global developmental delay Low-set, posteriorly rotated ears Abnormality of the medullary cavity of the long bones Abnormal circulating follicle-stimulating hormone level Retinal calcification Bilateral microphthalmos Calvarial osteosclerosis Stenosis of the medullary cavity of the long bones Thin long bone diaphyses Cortical thickening of long bone diaphyses Postnatal macrocephaly Congenital hypoparathyroidism Thickened cortex of long bones Hypocalcemic tetany Hypocalcemic seizures Persistence of primary teeth Cerebral dysmyelination Titubation Hypoplastic toenails Metaphyseal dysplasia Hyperechogenic pancreas Laryngeal cleft Subglottic stenosis Normocytic anemia Prolonged prothrombin time Prolonged partial thromboplastin time Mild global developmental delay Severe failure to thrive Exocrine pancreatic insufficiency Steatorrhea Spasticity Neurodevelopmental delay Mild short stature Metaphyseal irregularity Metaphyseal widening Laryngomalacia Genu varum Severe muscular hypotonia Rhizomelia Diarrhea Muscular hypotonia Hypoplasia of the corpus callosum Decreased light- and dark-adapted electroretinogram amplitude Esotropia Motor deterioration Developmental stagnation Abnormality of abdomen morphology Severe vision loss Palpebral edema Opacification of the corneal stroma Amblyopia Progressive neurologic deterioration Spastic tetraplegia Retinal dystrophy Cerebellar atrophy Retinal degeneration Abnormality of eye movement Abnormality of the cerebral white matter Corneal opacity Abnormality of the nervous system Hepatosplenomegaly Coarse facial features Reduced visual acuity Babinski sign Dystonia Polycystic ovaries Non-midline cleft lip Deep philtrum Micromelia Highly arched eyebrow Small hand High, narrow palate Hirsutism Pulmonary hypoplasia Thick eyebrow Thin vermilion border Cleft upper lip Vertigo Pulmonic stenosis Delayed eruption of teeth Prominent nasal bridge Abnormality of the pinna Telecanthus Hypertrophic cardiomyopathy Aggressive behavior Proteinuria Hypoglycemia Retrognathia Hyperactivity Sleep disturbance Microcornea Pneumonia Low anterior hairline Incoordination Abnormality of the urinary system Hypoplasia of the radius Relative macrocephaly Widely spaced teeth Torticollis Spontaneous abortion Elbow flexion contracture Increased body weight Long eyelashes Triangular face Recurrent urinary tract infections Choanal atresia Hypertrichosis Renal hypoplasia Blue sclerae Congenital diaphragmatic hernia Microdontia Otitis media Vesicoureteral reflux Sepsis Hyperhidrosis Abnormal heart morphology Abnormality of the elbow Hypoplasia of dental enamel Brachydactyly Epicanthus Short 2nd finger Hypochromic anemia Long toe Moderate global developmental delay Sparse lateral eyebrow Down-sloping shoulders Preauricular skin tag Mitral regurgitation Rod-cone dystrophy Hip dysplasia Dental malocclusion Hypodontia Osteopenia Upslanted palpebral fissure Pectus excavatum Dysphagia Pulverulent cataract Nuclear cataract Ectopic anus Cerebellar hypoplasia Osteoporosis Hypertonia Central hypothyroidism Abnormality of the dentition Vomiting Intellectual disability, severe Cardiomyopathy Hydrocephalus Talipes equinovarus Ventricular septal defect Abnormality of the skeletal system Hypertension Mild microcephaly Gait ataxia Spondyloepiphyseal dysplasia Cutaneous syndactyly Microretrognathia Progressive microcephaly Dental crowding Febrile seizures Protruding ear Neonatal hypotonia Polyhydramnios Hypothyroidism Enlarged cisterna magna



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