Anemia, and Triangular face

Diseases related with Anemia and Triangular face

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


Top matches:

Medium match OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8


Related symptoms:

  • Failure to thrive
  • Strabismus
  • Anemia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8

Medium match TRANSALDOLASE DEFICIENCY


Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

Medium match FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Neoplasm
  • Anemia


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP I; FANCI

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Other less relevant matches:

Medium match MEVALONIC ACIDURIA


Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

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

Medium match FETAL GAUCHER DISEASE


Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).

FETAL GAUCHER DISEASE Is also known as perinatal lethal gaucher disease|gaucher disease, collodion type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FETAL GAUCHER DISEASE

Medium match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Low match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Low match WOLCOTT-RALLISON SYNDROME


Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.

WOLCOTT-RALLISON SYNDROME Is also known as iddm-med syndrome|med-iddm syndrome|wolcott-rallison syndrome|wrs|early-onset diabetes mellitus with multiple epiphyseal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOLCOTT-RALLISON SYNDROME

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

Top 5 symptoms//phenotypes associated to Anemia and Triangular face

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Intrauterine growth retardation Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Growth delay

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Hepatosplenomegaly

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Splenomegaly Hepatomegaly Seizures Depressed nasal bridge Failure to thrive Severe short stature Ventricular septal defect Intellectual disability Generalized hypotonia Muscular hypotonia Delayed skeletal maturation Synophrys Small for gestational age Postnatal growth retardation Atrial septal defect Edema Optic atrophy Gait disturbance High palate Cryptorchidism Hypertelorism High forehead Neoplasm Hypothyroidism Astigmatism Renal hypoplasia Hypermetropia Clinodactyly Abnormality of the pinna Nystagmus Downslanted palpebral fissures Obesity Posteriorly rotated ears Micrognathia Anteverted nares Delayed speech and language development Elevated hepatic transaminase Low-set, posteriorly rotated ears Pulmonic stenosis Leukemia Long philtrum Blue sclerae Cardiomyopathy Hypertonia Hip dislocation Retrognathia Inguinal hernia Hypoglycemia Hypoplasia of the corpus callosum Patent foramen ovale Pancytopenia Hydrops fetalis Abnormal bleeding Prominent forehead Macrocephaly Deep philtrum Poor suck Thin vermilion border Feeding difficulties Vomiting

Rare Symptoms - Less than 30% cases


Hypertension Short chin Hyperlordosis Hyperactivity Upslanted palpebral fissure Irritability Metabolic acidosis Pes cavus Clinodactyly of the 5th finger Hypospadias Kyphosis Abnormality of the skeletal system Leukopenia Cognitive impairment Petechiae Cleft palate Ptosis Scoliosis Short neck Underdeveloped nasal alae Highly arched eyebrow Extramedullary hematopoiesis Hearing impairment Sensorineural hearing impairment Epicanthus Progressive cerebellar ataxia Clitoral hypertrophy Microtia Pleural effusion High, narrow palate Camptodactyly Ascites Jaundice Polyhydramnios Proptosis Narrow mouth Respiratory distress Ventriculomegaly Talipes equinovarus Spasticity Frontal bossing Microdontia Hydrocephalus Cone-shaped epiphyses of the phalanges of the hand Opisthotonus Dislocated radial head Elbow flexion contracture Brachycephaly Abnormal heart morphology Abnormality of the spleen Sloping forehead Convex nasal ridge Tapered finger Single transverse palmar crease Thick eyebrow Neurodevelopmental delay Patent ductus arteriosus Motor delay Pulmonary hypoplasia Ataxia Abnormality of cardiovascular system morphology Diarrhea Oligohydramnios Fever Cataract Pain Conductive hearing impairment Sparse hair Low posterior hairline Pallor Prominent nasal bridge Torticollis Hernia Neutropenia Vesicoureteral reflux Falls Myopia Myopathy Bone marrow hypocellularity Abnormality of the liver Proximal placement of thumb Webbed neck Hepatic failure Diabetes mellitus Acidosis Gastroesophageal reflux Short philtrum Ectopic kidney Mandibular prognathia Nephropathy Exocrine pancreatic insufficiency Abnormality of epiphysis morphology Lymphoma Hyperpigmentation of the skin Genu valgum Recurrent fractures Bruising susceptibility Platyspondyly Joint stiffness Dehydration Hepatitis Abnormality of the metaphysis Coma Hyperuricemia Coxa valga Hip dysplasia Epistaxis Steatorrhea Fine hair Cyanosis Mitral regurgitation Short thorax Abnormality of neuronal migration Spondyloepiphyseal dysplasia Preauricular pit Type I diabetes mellitus Osteopenia Wide intermamillary distance Thick vermilion border Hypoplasia of the odontoid process Esotropia Hyperglycemia Epiphyseal dysplasia Glycosuria Wormian bones Decreased muscle mass Weight loss Prominent fingertip pads Joint laxity Reduced factor IX activity Abnormality of the mediastinum Arteritis Pulmonary lymphangiectasia Monocytosis Broad toe Macrotia Chylothorax Bilateral ptosis Hypochromic microcytic anemia B-cell lymphoma Cubitus valgus Overfolded helix Short attention span Hydrocele testis Facial hypotonia Pectus excavatum Abnormal eyebrow morphology Abnormality of the thorax Long neck Cafe-au-lait spot Reduced prothrombin activity Osteoporosis Lymphedema Renal insufficiency Aortic valve stenosis Bilateral single transverse palmar creases Brachydactyly Abnormality of the subarachnoid space Joint hypermobility Reduced factor X activity Bicuspid aortic valve Feeding difficulties in infancy Cholelithiasis Juvenile myelomonocytic leukemia Failure to thrive in infancy Abnormality of the foot Reduced factor XII activity Hypoplasia of olfactory tract Gastrointestinal stroma tumor Broad forehead Pectus carinatum Vasculitis Autism Insulin-resistant diabetes mellitus Pyloric stenosis Ectrodactyly Oligodactyly Hypoplastic nipples Weak cry Abnormality of digit Limited elbow extension 2-3 toe syndactyly Short middle phalanx of finger Cutis marmorata Tricuspid regurgitation Clubbing Self-injurious behavior Short metatarsal Hiatus hernia Incoordination Abnormality of the urinary system Hypoplasia of the radius Relative macrocephaly Widely spaced teeth Spontaneous abortion Increased body weight Low anterior hairline Aspiration Long eyelashes Recurrent urinary tract infections Choanal atresia Hypertrichosis Poor appetite Aspiration pneumonia Congenital diaphragmatic hernia Absent hand Hypoplastic radial head Abnormality of the umbilicus Reduced renal corticomedullary differentiation Otitis media with effusion Malrotation of colon Duplication of internal organs Projectile vomiting Left-to-right shunt Hypertropia Esophageal stenosis Hypoplastic male external genitalia Curly eyelashes Gastroparesis Esophagitis Supernumerary ribs Phocomelia Hand oligodactyly Perimembranous ventricular septal defect Short sternum Peters anomaly Panhypopituitarism Volvulus Recurrent hypoglycemia Thick upper lip vermilion Optic nerve coloboma Abnormality of the gastrointestinal tract Hypoplastic labia majora High myopia Otitis media Overweight Pancreatic hypoplasia Intracerebral periventricular calcifications Ivory epiphyses of the phalanges of the hand Abnormality of pancreas morphology Reduced pancreatic beta cells Irregular carpal bones Bilateral coxa valga Transient neonatal diabetes mellitus Shortening of all middle phalanges of the fingers Chronic hepatic failure Atlantoaxial dislocation Decreased hip abduction Hip subluxation Central hypothyroidism Ivory epiphyses of the toes Flattened epiphysis Narrow iliac wings Thoracolumbar kyphosis Carpal bone hypoplasia Enlarged thorax Small epiphyses Thin bony cortex Multiple epiphyseal dysplasia Acute hepatic failure Barrel-shaped chest Renal tubular dysfunction Ketoacidosis Irregular vertebral endplates Irregular tarsal ossification Wide nasal bridge Sepsis Autistic behavior Renal cyst Microcornea Delayed eruption of teeth Sleep disturbance Small hand Downturned corners of mouth Hirsutism Cleft upper lip Vertigo Micromelia Toe syndactyly Craniosynostosis Respiratory tract infection Intellectual disability, severe Telecanthus Hypertrophic cardiomyopathy Aggressive behavior Proteinuria Thin upper lip vermilion Glioma Glaucoma Hyperhidrosis Pneumonia Headache Syndactyly Behavioral abnormality Abnormality of the dentition Multinodular goiter Low voltage EEG Chronic lung disease Normocytic anemia Blepharophimosis Intellectual disability, moderate Pes planus Normocytic hypoplastic anemia Fluctuating splenomegaly Fluctuating hepatomegaly Morbilliform rash Chronic leukemia Therapeutic abortion Glutathione synthetase deficiency Hypoplastic anemia Agenesis of cerebellar vermis Talipes Cholestatic liver disease Organic aciduria Nuclear cataract Severe failure to thrive Leukocytosis Large fontanelles Clumsiness Aciduria Nevus Retinal dystrophy Lactic acidosis Facial asymmetry Dental malocclusion Malabsorption Chromosome breakage Large basal ganglia Hypoplasia of proximal radius Abnormal finger flexion creases Ivory epiphyses Small anterior fontanelle Lumbar scoliosis Selective tooth agenesis Acute monocytic leukemia 11 pairs of ribs Abnormal cortical gyration Abnormally large globe Severe intrauterine growth retardation Prominent nose Proportionate short stature Acute myeloid leukemia Myeloid leukemia Myelodysplasia Sandal gap Narrow palate Narrow face Dental crowding Hypoplasia of dental enamel Pachygyria Cerebellar vermis hypoplasia Lymphadenopathy Dolichocephaly Flexion contracture Coarctation of aorta Functional respiratory abnormality Micronodular cirrhosis Biventricular hypertrophy Premature skin wrinkling Dextrocardia Cutis laxa Situs inversus totalis Decreased liver function Wide anterior fontanel Hepatic fibrosis Telangiectasia Asthma Abnormality of the clitoris Cirrhosis Wide mouth Abnormality of the kidney Hydronephrosis Increased density of long bones Uncontrolled eye movements Increased head circumference Osteopetrosis Short femoral neck Brain atrophy Facial palsy Infra-orbital crease Increased serum bile acid concentration Skin rash Abnormal renal morphology Abnormality of the nervous system Arthralgia Kyphoscoliosis Cerebral cortical atrophy Abdominal pain Elevated serum creatine phosphokinase Cerebral atrophy Cerebellar atrophy Chromosomal breakage induced by crosslinking agents Small pituitary gland Colpocephaly Fused cervical vertebrae Abnormality of glutamine metabolism Short 1st metacarpal Duodenal atresia Absent septum pellucidum Absent thumb Optic nerve hypoplasia Arnold-Chiari malformation Horseshoe kidney Short thumb Growth hormone deficiency Agenesis of corpus callosum Microphthalmia Hypoplasia of proximal fibula Hyperreflexia Shuffling gait Retinopathy Limb undergrowth Decreased testicular size Renal agenesis Broad nasal tip Polyneuropathy Sensory neuropathy Long face Dysmetria Dilated cardiomyopathy Attention deficit hyperactivity disorder Abnormal pyramidal sign Rigidity Bradykinesia Deeply set eye Micropenis Hypogonadism Babinski sign Midface retrusion Recurrent infections Immunodeficiency Tremor Dysarthria Peripheral neuropathy Mild fetal ventriculomegaly Pigmentary retinopathy Hypotelorism Abnormality of the microglia Unilateral renal agenesis Misalignment of teeth Low hanging columella Increased circulating gonadotropin level Abnormality of lipid metabolism Cerebellar vermis atrophy Long nose Truncal obesity Cortical gyral simplification High pitched voice Sensory axonal neuropathy Bilateral cryptorchidism Postural tremor Apraxia Dysdiadochokinesis Slurred speech Goiter Acanthosis nigricans Hypergonadotropic hypogonadism Lymphopenia Insulin resistance Abnormal lung morphology Broad-based gait Cutaneous photosensitivity Epidermal acanthosis Enlarged fetal cisterna magna Hydropic placenta Skeletal muscle atrophy Cerebral calcification Intracranial hemorrhage Purpura Knee flexion contracture Thickened skin Abnormality of the face Open mouth Progressive neurologic deterioration Depressed nasal ridge Interphalangeal joint contracture of finger Cardiomegaly Decreased fetal movement Premature birth Congenital contracture Everted lower lip vermilion Ichthyosis Abnormality of eye movement Arthrogryposis multiplex congenita Developmental regression Apnea Neonatal hypotonia Hyperkeratosis Short nose Respiratory insufficiency Dysphagia Ectropion Apathy Abnormality of the small intestine Astrocytosis Abnormal pupillary function Decreased beta-glucocerebrosidase protein and activity Sudden episodic apnea Desquamation of skin soon after birth Myocardial necrosis Hepatic necrosis Abnormality of the spinal cord Severe hydrops fetalis Generalized hyperkeratosis Everted upper lip vermilion Pneumothorax Abnormality of the larynx Akinesia Congenital nonbullous ichthyosiform erythroderma Overlapping fingers Nonimmune hydrops fetalis Fetal akinesia sequence Cardiorespiratory arrest Distal arthrogryposis Congenital ichthyosiform erythroderma Hypokinesia Abnormality of coagulation Thoracic hypoplasia Multiple joint contractures Neonatal respiratory distress Dysplastic tricuspid valve



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Talipes equinovarus, related diseases and genetic alterations Autoimmunity and Elevated serum creatine phosphokinase, related diseases and genetic alterations Motor delay and Delayed eruption of teeth, related diseases and genetic alterations High palate and Microtia, related diseases and genetic alterations Immunodeficiency and Muscular hypotonia of the trunk, related diseases and genetic alterations

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