Anemia, and Microcornea

Diseases related with Anemia and Microcornea

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


Top matches:

Medium match 8P11.2 DELETION SYNDROME


8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

8P11.2 DELETION SYNDROME Is also known as del(8)(p11.2)|monosomy 8p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about 8P11.2 DELETION SYNDROME

Medium match VACTERL WITH HYDROCEPHALUS


VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.

VACTERL WITH HYDROCEPHALUS Is also known as vacterl-h|sujansky-leonard syndrome

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VACTERL WITH HYDROCEPHALUS

Medium match FAMILIAL BENIGN CHRONIC PEMPHIGUS


Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL BENIGN CHRONIC PEMPHIGUS

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Other less relevant matches:

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 LATHOSTEROLOSIS


Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

LATHOSTEROLOSIS Is also known as sc5d deficiency|sterol c5-desaturase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LATHOSTEROLOSIS

Low match N SYNDROME


N syndrome is characterised by intellectual deficit, deafness, ocular anomalies, T-cell leukaemia, cryptorchidism, hypospadias and spasticity.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Neoplasm
  • Cryptorchidism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about N SYNDROME

Low match REVESZ SYNDROME


Revesz syndrome is a rare severe phenotypic variant of dyskeratosis congenita (DC; see this term) with an onset in early childhood, characterized by features of DC (e.g. skin hyper/hypopigmentation, nail dystrophy, oral leukoplakia, high risk of bone marrow failure (BMF) and cancer, developmental delay sparse and fine hair) in conjunction with bilateral exudative retinopathy, and intracranial calcifications.

REVESZ SYNDROME Is also known as exudative retinopathy with bone marrow failure|dkca5|dyskeratosis congenita, autosomal dominant 5|dyskeratosis congenita with bilateral exudative retinopathy|retinopathy-anemia-central nervous system anomalies syndrome|revesz-debuse syndrome

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Growth delay
  • Nystagmus
  • Anemia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about REVESZ SYNDROME

Low match THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR


The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see {227650}). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by Albers et al., 2012).

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Is also known as tar syndrome|chromosome 1q21.1 deletion syndrome, 200-kb

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR

Low match PERSISTENT HYPERPLASTIC PRIMARY VITREOUS


Persistent hyperplastic primary vitreous (PHPV), also termed 'persistent fetal vasculature,' is a developmental malformation of the eye in which the primary vitreous fails to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. This abnormality is usually unilateral and associated with microphthalmia, cataract, glaucoma, and congenital retinal nonattachment (see Haddad et al., 1978; Khaliq et al., 2001; Prasov et al., 2012).PHPV shares phenotypic overlap with Norrie disease (OMIM ). Genetic Heterogeneity of Persistent Hyperplastic Primary VitreousA dominant form of PHPV has been described (PHPVAD ).

PERSISTENT HYPERPLASTIC PRIMARY VITREOUS Is also known as rnanc|persistent fetal vasculature|persistent fetal vasculature syndrome|pfvs|congenital retinal detachment|ncrna disease|retinal nonattachment and falciform detachment|ncrna|phpv|retinal nonattachment, nonsyndromic congenital|non-syndromic congenital ret

Related symptoms:

  • Nystagmus
  • Cataract
  • Blindness
  • Microphthalmia
  • Glaucoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERSISTENT HYPERPLASTIC PRIMARY VITREOUS

Low match CATARACT 23, MULTIPLE TYPES; CTRCT23


Mutation in the CRYBA4 gene has been found in families with cataract described as congenital, lamellar, and nuclear.

CATARACT 23, MULTIPLE TYPES; CTRCT23 Is also known as cataract 23, multiple types, with or without microcornea

Related symptoms:

  • Cataract
  • Microphthalmia
  • Microcornea
  • Nuclear cataract
  • Lamellar cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 23, MULTIPLE TYPES; CTRCT23

Top 5 symptoms//phenotypes associated to Anemia and Microcornea

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Cataract Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Hearing impairment Talipes equinovarus Glaucoma Hip dislocation Microphthalmia Cleft palate Seizures Intrauterine growth retardation Nystagmus Short stature Neoplasm Thrombocytopenia Strabismus Sensorineural hearing impairment Hypertension Abnormality of the skeletal system Microcephaly Hypoplasia of the radius Ptosis Abnormal heart morphology Hypospadias High palate Feeding difficulties Depressed nasal bridge Anteverted nares Megalocornea Atrial septal defect

Rare Symptoms - Less than 30% cases


Pneumonia Sparse hair Microdontia Delayed eruption of teeth Small hand Nail dystrophy Corneal opacity Small for gestational age Phocomelia Mandibular prognathia Absent radius Osteoporosis Short nose Vomiting Hepatosplenomegaly Cerebral calcification Horseshoe kidney Leukemia Pyloric stenosis Patellar aplasia Clinodactyly of the 5th finger Sepsis Brachycephaly Conductive hearing impairment Toe syndactyly Thin vermilion border Syndactyly Long philtrum Downturned corners of mouth Hypertonia Aplastic anemia Bilateral radial aplasia Intellectual disability, severe Chromosome breakage Ventricular septal defect Wide nasal bridge Thick upper lip vermilion Leukocoria Failure to thrive Scoliosis Generalized hypotonia Cerebellar hypoplasia Blue sclerae Hypertelorism Absent thumb Supernumerary ribs Hydrocephalus Inguinal hernia Hypogonadism Retrognathia Abnormality of the kidney Anal atresia Pulmonary hypoplasia Renal hypoplasia Hypoplasia of penis Iris coloboma Spina bifida Epicanthus Reduced renal corticomedullary differentiation Severe generalized osteoporosis Curly eyelashes Lumbosacral meningocele Bilobate gallbladder Hypoplastic male external genitalia Foam cells with lamellar inclusion bodies Esophageal stenosis Hypertropia Schistocytosis Spasticity Abnormality of cholesterol metabolism Left-to-right shunt Abnormal platelet morphology Cerebellar cortical atrophy Anisopoikilocytosis Neural tube defect Increased mean platelet volume Butterfly vertebrae Abnormality of the thoracic spine Visual impairment Generalized osteoporosis Ataxia Hyperpigmentation of the skin Broad-based gait Progressive neurologic deterioration Fine hair Retinopathy Splenomegaly Hand oligodactyly Abnormality of metabolism/homeostasis Retinal dystrophy Absent hand T-cell lymphoma/leukemia Abnormal eye morphology Abnormality of chromosome stability Gastroparesis Patent ductus arteriosus Abnormal eyelid morphology Upslanted palpebral fissure Bilateral sensorineural hearing impairment Ambiguous genitalia, male Acanthocytosis Abnormality of the umbilicus Hemolytic anemia Full cheeks Postaxial polydactyly Bulbous nose Hepatic failure Talipes Abnormality of the liver Elevated hepatic transaminase Polydactyly Specific learning disability Myoclonus Cerebral atrophy Downslanted palpebral fissures Otitis media with effusion Hepatomegaly Muscular hypotonia Dysplastic tricuspid valve Hypoplastic radial head Malrotation of colon Duplication of internal organs Intrahepatic cholestasis Elevated alkaline phosphatase Myelomeningocele Meningocele Postaxial foot polydactyly Prominent metopic ridge Biparietal narrowing Bone marrow hypocellularity Bilateral talipes equinovarus Portal hypertension Projectile vomiting Postaxial hand polydactyly Arnold-Chiari malformation Opacification of the corneal stroma Hyperbilirubinemia Blepharophimosis Gingival overgrowth Cholestasis Sloping forehead Narrow forehead Pathologic fracture Microtia, third degree Purpura Aplasia/hypoplasia of the humerus Axial malrotation of the kidney Shoulder muscle hypoplasia Tetraphocomelia Lactose intolerance Edema of the dorsum of feet Tibial torsion Amegakaryocytic thrombocytopenia Nevus flammeus of the forehead Edema of the dorsum of hands Blindness Intermittent thrombocytopenia Renal malrotation Meckel diverticulum Abnormality of the shoulder Aplasia/Hypoplasia of the ulna Cervical ribs Generalized tonic-clonic seizures with focal onset Lateral clavicle hook Cow milk allergy Retinal detachment Fibular aplasia Band keratopathy Nuclear cataract Hyphema Retinal nonattachment Persistent pupillary membrane Posterior synechiae of the anterior chamber Phthisis bulbi Exudative vitreoretinopathy Shallow anterior chamber Remnants of the hyaloid vascular system Esotropia Retinal fold Bilateral microphthalmos Anterior synechiae of the anterior chamber Buphthalmos Vitreoretinopathy Pendular nystagmus Uveitis Congenital blindness Optic nerve hypoplasia Carpal bone hypoplasia Pancreatic cysts Oral leukoplakia Agenesis of corpus callosum Tetralogy of Fallot Focal-onset seizure Decreased antibody level in blood Intestinal malrotation Severe global developmental delay Finger syndactyly Abnormal cardiac septum morphology Cleft lip Malar flattening Ventricular hypertrophy Edema Motor delay Fine, reticulate skin pigmentation Exudative retinopathy Reticulated skin pigmentation Short sternum Ridged fingernail Nail pits Coarctation of aorta Cerebellar vermis hypoplasia Cavum septum pellucidum Carpal synostosis Aplasia of the uterus Fused cervical vertebrae Seborrheic dermatitis Allergy Delayed CNS myelination Duodenal atresia Cardiorespiratory arrest Patellar dislocation Nevus flammeus Broad thumb Focal impaired awareness seizure Intracranial hemorrhage Genu varum Eosinophilia Adducted thumb Hemangioma Coxa valga Short phalanx of finger Left ventricular hypertrophy Perimembranous ventricular septal defect Abnormality of the gastrointestinal tract Peters anomaly Abnormal form of the vertebral bodies Zonular cataract Juvenile cataract Annular pancreas Duodenal stenosis Iris atrophy Aplasia/Hypoplasia of the patella Skin erosion Acantholysis Rectovaginal fistula Renal agenesis Concave nasal ridge Poikiloderma Osteosarcoma Encephalocele Proportionate short stature Aplasia/Hypoplasia of the thumb Anteriorly placed anus Increased number of teeth Forearm reduction defects Abnormal facial shape Agenesis of permanent teeth Abnormality of cardiovascular system morphology Abnormality of the hypothalamus-pituitary axis Spherocytosis Delayed skeletal maturation Clinodactyly Hernia Headache Respiratory insufficiency Behavioral abnormality Abnormality of the dentition Low-set ears Cardiomyopathy Short neck Respiratory failure Polyhydramnios Optic atrophy Macrocephaly Fever Myopia Delayed speech and language development Skin vesicle Basal cell carcinoma Prominent forehead Diarrhea Skeletal dysplasia Kyphoscoliosis Abnormality of the vertebral column Hyperkeratosis Occipital encephalocele Esophageal atresia Alopecia Single umbilical artery Abnormality of the optic nerve Skin rash Aqueductal stenosis Frontal bossing Anotia Flexion contracture Femoral hernia Arrhinencephaly Radial club hand Absence of the sacrum Erythema Tracheoesophageal fistula Premature graying of hair Short palpebral fissure Squamous cell carcinoma Abnormal vertebral morphology Sarcoma Dermal atrophy Neoplasm of the skin Congenital hip dislocation Short thumb Telangiectasia Cutaneous photosensitivity Anophthalmia Growth hormone deficiency Hypodontia Hypopigmentation of the skin Hemivertebrae Short foot Abnormality of the outer ear Short palm Flat face Renal hypoplasia/aplasia Severe short stature Hyperhidrosis Panhypopituitarism Widely spaced teeth Clubbing Proximal placement of thumb Self-injurious behavior Short metatarsal Deep philtrum Incoordination Abnormality of the urinary system Relative macrocephaly Torticollis Cutis marmorata Spontaneous abortion Elbow flexion contracture Increased body weight Low anterior hairline Aspiration Long eyelashes Recurrent urinary tract infections Choanal atresia Tricuspid regurgitation Short middle phalanx of finger Low posterior hairline Hiatus hernia Volvulus Recurrent hypoglycemia Mitral valve prolapse Optic nerve coloboma Abnormality of the fallopian tube Hypoplastic labia majora Esophagitis Aspiration pneumonia Poor appetite 2-3 toe syndactyly Ectrodactyly Oligodactyly Hypoplastic nipples Dislocated radial head Weak cry Abnormality of digit Limited elbow extension Opisthotonus Ectopic kidney Hypertrichosis High myopia External ear malformation Hypertrophic cardiomyopathy Craniosynostosis Autistic behavior Pallor Respiratory tract infection Postnatal growth retardation Abnormality of the pinna Camptodactyly Telecanthus Aggressive behavior Synophrys Proteinuria Preauricular pit Hypoglycemia Thin upper lip vermilion Gastroesophageal reflux Proptosis Autism Narrow mouth Hyperactivity Prominent nasal bridge Pulmonic stenosis Congenital diaphragmatic hernia Single transverse palmar crease Otitis media Webbed neck Vesicoureteral reflux Hypogonadotrophic hypogonadism Triangular face Renal cyst Sleep disturbance Tapered finger Highly arched eyebrow Anosmia High, narrow palate Azoospermia Hirsutism Thick eyebrow Sacral dimple Cleft upper lip Vertigo Astigmatism Micromelia Lamellar cataract



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