Anemia, and Talipes equinovarus

Diseases related with Anemia and Talipes equinovarus

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


Top matches:

Low match SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

Low match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6


Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

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

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Other less relevant matches:

Low match MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN


Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Low 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

Low match MIRAGE SYNDROME


MIRAGE syndrome is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The condition is often fatal within the first decade of life, usually as a result of invasive infection (Narumi et al., 2016).

MIRAGE SYNDROME Is also known as myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome|myelodysplasia, infection, restriction of gr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about MIRAGE SYNDROME

Low match COG6-CGD


CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

Low match ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME


X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

Low match SINGLETON-MERTEN DYSPLASIA


Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).

SINGLETON-MERTEN DYSPLASIA Is also known as singleton-merten syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SINGLETON-MERTEN DYSPLASIA

Low match DK1-CDG


DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.

DK1-CDG Is also known as cdg-im|cdg im|hypotonia and ichthyosis due to dolichol phosphate deficiency|cdg syndrome type im|congenital disorder of glycosylation type im|congenital disorder of glycosylation type 1m|cdgim|dk1 deficiency|cdg1m|carbohydrate deficient glycoprotein syndr

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DK1-CDG

Top 5 symptoms//phenotypes associated to Anemia and Talipes equinovarus

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Generalized hypotonia Cryptorchidism Patent ductus arteriosus Hypertelorism Microcephaly Hepatomegaly Intrauterine growth retardation Diarrhea Abnormal intestine morphology Flat face Epicanthus Thrombocytopenia Failure to thrive Cerebral cortical atrophy Muscular hypotonia Depressed nasal bridge Brachydactyly Anteverted nares Recurrent infections

Rare Symptoms - Less than 30% cases


Strabismus Micrognathia Abnormal isoelectric focusing of serum transferrin Hyperkeratosis Cholestasis Chronic diarrhea Decreased fetal movement Abnormal cardiac septum morphology Sensorineural hearing impairment Vomiting Short neck Abnormal bleeding Cataract Elevated hepatic transaminase Clinodactyly of the 5th finger Decreased body weight Myopia Recurrent urinary tract infections Hypoglycemia Gastroesophageal reflux Lymphopenia Leukopenia Abnormality of the dentition Sacral dimple Muscle weakness Thin upper lip vermilion Splenomegaly Congestive heart failure Arrhythmia Nystagmus Neurodevelopmental delay Broad forehead Hydronephrosis Hypoplasia of penis Midface retrusion Delayed eruption of teeth Motor delay Joint laxity Osteopenia Macroglossia Cognitive impairment Telecanthus Dry skin Hypothyroidism Hip dislocation Constipation Elevated serum creatine phosphokinase Sparse and thin eyebrow Talipes Dilatation Cardiomyopathy Profound global developmental delay Abnormality of movement Everted lower lip vermilion Myalgia Nausea and vomiting Microcytic anemia Spastic paraplegia Lipoatrophy Aganglionic megacolon Abnormality of coagulation Ambiguous genitalia Thick lower lip vermilion Depressed nasal ridge Abnormality of the face Tented upper lip vermilion Encephalitis Self-injurious behavior Dysphasia Male pseudohermaphroditism Volvulus Abnormal hemoglobin U-Shaped upper lip vermilion Abnormality of fontanelles Epileptic spasms Myocarditis Joint stiffness Hyperbilirubinemia Abnormal cortical gyration Combined immunodeficiency Loss of consciousness Aplasia/Hypoplasia of the nipples Inflammation of the large intestine Type I transferrin isoform profile Hypohidrosis Impaired T cell function Pancytopenia Reduced antithrombin III activity Hip dysplasia Focal-onset seizure Decreased antibody level in blood Adactyly Proximal tubulopathy Micronodular cirrhosis Feeding difficulties in infancy Hypoketotic hypoglycemia Abnormality of the kidney Bilateral talipes equinovarus Autism Agenesis of corpus callosum Depressivity Behavioral abnormality Blindness Macrovesicular hepatic steatosis Optic atrophy Congenital hepatic fibrosis Flexion contracture Type II transferrin isoform profile Abnormal T cell morphology Gastrointestinal inflammation Abnormality of the male genitalia Hyperglycemia Ptosis Expanded metacarpals with widened medullary cavities Hip subluxation Mitral valve calcification Premature loss of permanent teeth Unerupted tooth Dentinogenesis imperfecta limited to primary teeth Severe muscular hypotonia Tendon rupture Hypoplasia of the tooth germ Aortic arch calcification Sparse eyelashes Recurrent pneumonia Expanded metatarsals with widened medullary cavities Hypoplastic distal radial epiphyses Aspiration Aortic valve calcification Expanded phalanges with widened medullary cavities Renal insufficiency Bradycardia Postnatal microcephaly Absent speech Thin skin Inflammatory abnormality of the skin Hypsarrhythmia Alopecia Cyanosis Tetraplegia Neutropenia Ichthyosis Dilated cardiomyopathy Ventricular tachycardia Shallow acetabular fossae Hypertension Cutaneous photosensitivity Skeletal muscle atrophy Apnea Visual loss Recurrent respiratory infections Pes cavus Osteoporosis Glaucoma Carious teeth Genu valgum Smooth philtrum Hypoplasia of the maxilla Generalized muscle weakness Waddling gait Cardiomegaly Aortic valve stenosis Muscle fiber atrophy Coxa valga Osteolysis Scaling skin Psoriasiform dermatitis Epiphora Ventricular fibrillation Heart block Erythroderma Periodontitis High anterior hairline Osteolytic defects of the phalanges of the hand Postaxial polydactyly Onycholysis Subvalvular aortic stenosis Hepatic steatosis Intracranial hemorrhage Cirrhosis Cleft palate Dyspnea Camptodactyly Hepatic failure Pulmonary hypoplasia Ascites Large fontanelles Lymphedema Decreased liver function Tachypnea Hypoalbuminemia Protein-losing enteropathy Abnormality of the renal tubule Primary hypothyroidism Hearing impairment Delayed speech and language development Ventricular septal defect Downslanted palpebral fissures Malar flattening Clinodactyly Narrow mouth Pes planus Conductive hearing impairment Synophrys Thin vermilion border Joint hypermobility Bifid uvula Esotropia Renal dysplasia Dental crowding Finger clinodactyly Long philtrum Increased T3/T4 ratio Hypercalciuria Intellectual disability, moderate Frontal bossing Severe short stature Proptosis High forehead Sparse hair Small for gestational age Short distal phalanx of finger Hypopigmentation of the skin Hypopigmented skin patches Spotty hypopigmentation Anisopoikilocytosis Macrocephaly Delayed skeletal maturation Skeletal dysplasia Limb undergrowth No permanent dentition Broad-based gait Omphalocele Clumsiness Hoarse voice Increased body weight Congenital hip dislocation Wormian bones Coxa vara Hypercholesterolemia Relative macrocephaly Congenital hypothyroidism Drowsiness Long thorax Thyroid hormone receptor defect Nephrocalcinosis Patent foramen ovale Malabsorption Hypoplastic spleen Myelodysplasia Hyponatremia Rocker bottom foot Adrenal insufficiency Hyperkalemia Petechiae Shawl scrotum Adrenal hypoplasia Aspiration pneumonia Overlapping fingers Achalasia Microphallus Esophageal stricture Radial club hand Ventriculomegaly Meningitis Hypoplasia of the corpus callosum Cerebellar atrophy Immunodeficiency Cerebral atrophy Hyperhidrosis Polydactyly Polyhydramnios Retrognathia Hepatosplenomegaly Neonatal hypotonia Aggressive behavior Muscular hypotonia of the trunk Abnormality of the liver Arthrogryposis multiplex congenita Recurrent bacterial infections Hypergonadotropic hypogonadism Mixed hearing impairment Retinal dystrophy Severe sensorineural hearing impairment Large forehead Elliptocytosis Broad distal phalanx of finger Mild conductive hearing impairment Cleft hard palate High palate Feeding difficulties Atrial septal defect Upslanted palpebral fissure Hypogonadism Blepharophimosis Iris coloboma Hemolytic anemia Microcornea Hyperpigmentation of the skin Supernumerary ribs Decreased testicular size Sepsis Paraplegia Hypospadias Hydrocephalus Scoliosis Spherocytosis Mitral valve prolapse Abnormality of the hypothalamus-pituitary axis External ear malformation Preauricular pit Anosmia Azoospermia Hypogonadotrophic hypogonadism Aplasia of the fingers



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Skeletal muscle atrophy and Chronic myelogenous leukemia, related diseases and genetic alterations Immunodeficiency and Recurrent respiratory infections, related diseases and genetic alterations Cryptorchidism and Telangiectasia, related diseases and genetic alterations Failure to thrive and Clinodactyly, related diseases and genetic alterations Micrognathia and Lethargy, related diseases and genetic alterations Leukemia and Generalized tonic-clonic seizures, related diseases and genetic alterations

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