Anemia, and Tapered finger

Diseases related with Anemia and Tapered finger

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


Top matches:

Medium 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

Medium 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

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

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Other less relevant matches:

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

Medium match NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4


Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4

Medium match ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX


ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX Is also known as alpha-thalassemia/mental retardation syndrome, nondeletion type|atr, nondeletion type|atr-x syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

Medium match SECKEL SYNDROME 1; SCKL1


Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). Genetic Heterogeneity of Seckel SyndromeOther forms of Seckel syndrome include SCKL2 (OMIM ), caused by mutation in the RBBP8 gene (OMIM ) on chromosome 18q11; SCKL4 (OMIM ), caused by mutation in the CENPJ gene (OMIM ) on chromosome 13q12; SCKL5 (OMIM ), caused by mutation in the CEP152 gene (OMIM ) on chromosome 15q21; SCKL6 (OMIM ), caused by mutation in the CEP63 gene (OMIM ) on chromosome 3q22; SCKL7 (OMIM ), caused by mutation in the NIN gene (OMIM ) on chromosome 14q22; SCKL8 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q21; SCKL9 (OMIM ), caused by mutation in the TRAIP gene (OMIM ) on chromosome 3p21; and SCKL10 (OMIM ), caused by mutation in the NSMCE2 gene (OMIM ) on chromosome 8q24.The report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by Kilinc et al. (2003) was found to be in error; see HISTORY.

SECKEL SYNDROME 1; SCKL1 Is also known as bird-headed dwarfism|nanocephalic dwarfism|sckl|microcephalic primordial dwarfism i|seckel-type dwarfism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 1; SCKL1

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 ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME


Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including COL4A5, FACL4 and AMMECR1.

ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME Is also known as ats-mr|chromosome xq22.3 telomeric deletion syndrome|amme syndrome|alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis|amme complex

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALPORT SYNDROME-INTELLECTUAL DISABILITY-MIDFACE HYPOPLASIA-ELLIPTOCYTOSIS SYNDROME

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

Top 5 symptoms//phenotypes associated to Anemia and Tapered finger

Symptoms // Phenotype % cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Clinodactyly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge Intellectual disability Global developmental delay Growth delay Syndactyly Single transverse palmar crease Generalized hypotonia Hypospadias Abnormal facial shape Anteverted nares Myopia Low-set ears Strabismus High palate Hepatomegaly Pulmonic stenosis Recurrent infections Short stature Scoliosis Dental malocclusion High myopia Hernia Thrombocytopenia Depressed nasal bridge Pneumonia Webbed neck Midface retrusion Microcytic anemia Vomiting Cleft palate Neoplasm Ventricular septal defect Epicanthus Splenomegaly Intrauterine growth retardation Micrognathia Hypertelorism Gastroesophageal reflux Postnatal growth retardation Atrial septal defect Long philtrum Macrocephaly Inguinal hernia Intellectual disability, severe Failure to thrive

Rare Symptoms - Less than 30% cases


Thick eyebrow Delayed speech and language development Synophrys Brachydactyly Low posterior hairline Triangular face Elbow flexion contracture Long toe Hypoplasia of dental enamel Mitral regurgitation Smooth philtrum Craniosynostosis Brachycephaly Upslanted palpebral fissure Dysphagia Dislocated radial head Proteinuria Thin vermilion border Behavioral abnormality Delayed skeletal maturation Hip dislocation Intellectual disability, moderate Clinodactyly of the 5th finger Talipes equinovarus Hypertonia Malar flattening Posteriorly rotated ears Telecanthus Microtia Tented upper lip vermilion Thick vermilion border Recurrent urinary tract infections Aspiration Volvulus Perimembranous ventricular septal defect Downslanted palpebral fissures Long fingers Renal agenesis Narrow mouth Abnormality of the pinna Mandibular prognathia Thin upper lip vermilion Camptodactyly Abnormality of the skeletal system Toe syndactyly Small for gestational age Dental crowding Sepsis Retrognathia Hyperactivity Severe short stature Kyphosis Patent ductus arteriosus Hydronephrosis Hypertension Feeding difficulties Clubbing Myeloid leukemia Fever Pain Leukopenia Recurrent respiratory infections Respiratory insufficiency Fatigue Muscle weakness Myelodysplasia Vertigo Hematuria Edema Leukemia Acute myeloid leukemia Abdominal pain Pallor Lymphedema Weight loss Pancytopenia Autism Headache Abnormality of the dentition Glaucoma Prominent forehead Cardiomyopathy Proptosis Hypoglycemia Hyperhidrosis Hydrocephalus Conductive hearing impairment Abnormal heart morphology Short neck Abnormal neutrophil count Aggressive behavior Small hand Microdontia Otitis media Vesicoureteral reflux Renal cyst Microcornea Delayed eruption of teeth Sleep disturbance Highly arched eyebrow High, narrow palate Hypertrophic cardiomyopathy Downturned corners of mouth Hirsutism Pulmonary hypoplasia Cleft upper lip Astigmatism Micromelia Autistic behavior Respiratory tract infection Prominent nasal bridge Hypoplasia of proximal radius Optic atrophy Prominent nose Sandal gap Narrow palate Narrow face Pachygyria Cerebellar vermis hypoplasia Sloping forehead Convex nasal ridge Diarrhea Clitoral hypertrophy Talipes Facial asymmetry Alopecia Blepharophimosis Autoimmunity Hyperlordosis Pes planus Patent foramen ovale Cataract Ptosis Lumbar scoliosis Nystagmus Hypoplasia of proximal fibula Large basal ganglia Blue sclerae Abnormal finger flexion creases Ivory epiphyses Small anterior fontanelle Selective tooth agenesis Proportionate short stature Acute monocytic leukemia 11 pairs of ribs Abnormal cortical gyration Abnormally large globe Chromosome breakage Cone-shaped epiphyses of the phalanges of the hand Severe intrauterine growth retardation Congenital diaphragmatic hernia Spontaneous abortion Renal hypoplasia Malrotation of colon Renal insufficiency Muscular hypotonia Dysplastic tricuspid valve Hypoplastic radial head Abnormality of the umbilicus Reduced renal corticomedullary differentiation Otitis media with effusion Duplication of internal organs Abnormality of the metaphysis Projectile vomiting Left-to-right shunt Hypertropia Esophageal stenosis Hypoplastic male external genitalia Curly eyelashes Absent hand Gastroparesis Stage 5 chronic kidney disease Abnormality of the hair Phocomelia Abnormality of the liver Macrocytic anemia Abnormality of the coagulation cascade Delayed gross motor development Full cheeks Hepatic steatosis Hepatic failure Lactic acidosis Elevated hepatic transaminase Nephritis Frontal bossing Erythrocyte cylindruria Craniopharyngioma Elliptocytosis Abnormal aortic valve morphology Microscopic hematuria Increased number of teeth Glomerulopathy Supernumerary ribs Hand oligodactyly Hypertrichosis Abnormality of the urinary system Tricuspid regurgitation Proximal placement of thumb Self-injurious behavior Pyloric stenosis Short metatarsal Deep philtrum Incoordination Hypoplasia of the radius Short middle phalanx of finger Relative macrocephaly Widely spaced teeth Torticollis Malabsorption Increased body weight Low anterior hairline Long eyelashes Choanal atresia Cutis marmorata 2-3 toe syndactyly Short sternum Aspiration pneumonia Peters anomaly Panhypopituitarism Recurrent hypoglycemia Thick upper lip vermilion Optic nerve coloboma Abnormality of the gastrointestinal tract Hypoplastic labia majora Esophagitis Hiatus hernia Ectopic kidney Poor appetite Ectrodactyly Oligodactyly Hypoplastic nipples Weak cry Abnormality of digit Limited elbow extension Opisthotonus Nail dystrophy Hypoganglionosis Paresthesia Cerebellar atrophy Mild microcephaly Spondyloepiphyseal dysplasia Cutaneous syndactyly Microretrognathia Progressive microcephaly Decreased testicular size Febrile seizures Immunodeficiency Decreased taste sensation Hypermetropia Dolichocephaly Abnormal cardiac septum morphology Protruding ear Visual loss Neonatal hypotonia Respiratory failure Polyhydramnios Central hypothyroidism Gastrointestinal carcinoma Scarring Neutropenia Bronchiectasis Broad thumb Sparse scalp hair Pulmonary arterial hypertension Dystrophic fingernails Asthma Intestinal polyposis Protein-losing enteropathy Respiratory distress Pectus carinatum Joint laxity Stomach cancer Hepatosplenomegaly Hamartomatous polyposis Peripheral edema Patchy alopecia Glossitis Hypothyroidism Gait ataxia Recurrent bacterial infections Developmental regression Chronic otitis media Leukocytosis Prolonged bleeding time Hip dysplasia Cellulitis Hypodontia Wide mouth Osteopenia Intracranial hemorrhage Acute leukemia Hypercoagulability Verrucae Abnormality of the optic nerve Pectus excavatum Myeloproliferative disorder Granulocytopenia Erysipelas Preauricular skin tag Hypoparathyroidism Osteoporosis Bruising susceptibility Rod-cone dystrophy Cerebellar hypoplasia Neurological speech impairment Absent speech Nausea and vomiting Lymphadenopathy Cirrhosis Hemolytic anemia Down-sloping shoulders Ataxia Migraine Hypotelorism Bone marrow hypocellularity Short 2nd finger Hypochromic anemia Moderate global developmental delay Sparse lateral eyebrow Lymphopenia Plagiocephaly Pes cavus Hemivertebrae Shawl scrotum Protruding tongue Hydroureter Spastic diplegia Radial deviation of finger Infantile muscular hypotonia Drooling Coxa valga Facial hypotonia Abnormality of the fingernails Aganglionic megacolon Abnormal intestine morphology Abnormality of the genital system Thick lower lip vermilion Ambiguous genitalia Macroglossia Everted lower lip vermilion Male pseudohermaphroditism Chronic constipation Flat face Reduced alpha/beta synthesis ratio Abnormality of skin pigmentation Nail dysplasia Hypoplasia of the corpus callosum Anorexia Macronodular cirrhosis Hemoglobin H Endometriosis Widely-spaced maxillary central incisors Hypocalcemia Triangular mouth Absent frontal sinuses U-Shaped upper lip vermilion Abnormal hemoglobin Ileus Hyperpigmentation of the skin Hypochromic microcytic anemia Decreased serum testosterone level Cachexia Hypokalemia Cutis laxa Hypoplasia of the thymus Cor triatriatum Neonatal sepsis Intermittent thrombocytopenia Monocytosis Erythroid hypoplasia Congenital neutropenia Giant platelets Prominent superficial veins Hematochezia Varicose veins Premature loss of teeth Abnormality of lipid metabolism Iron deficiency anemia Clubbing of fingers Unilateral renal agenesis Failure to thrive in infancy Furrowed tongue Dystrophic toenail Spasticity Hypoalbuminemia Abnormality of metabolism/homeostasis Irritability Hypoplastic toenails Umbilical hernia Kyphoscoliosis Micropenis Aplasia/Hypoplasia of the eyebrow Constipation Cerebral atrophy Flexion contracture Colon cancer Short nose Sparse body hair Generalized hyperpigmentation Thromboembolism Xerostomia Abnormality of the vasculature Hypomagnesemia Acute hepatic failure



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