Anemia, and Thick vermilion border

Diseases related with Anemia and Thick vermilion border

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

Top matches:

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Anemia
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 8; DBA8

Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS

Other less relevant matches:

FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION Is also known as familial adenomatous polyposis due to del(5)(q22.2)|colorectal adenomatous polyposis due to monosomy 5q22.2|familial polyposis coli due to monosomy 5q22.2|familial adenomatous polyposis due to monosomy 5q22.2|fap due to monosomy 5q22.2

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION

Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLACKFAN-DIAMOND ANEMIA

Low match COG7-CDG

COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.

COG7-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iie|congenital disorder of glycosylation type 2e|cdg iie|cdg syndrome type iie|cdg2e|congenital disorder of glycosylation type iie|cdg-iie|cdgiie

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COG7-CDG

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

MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., {607016}). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).

MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS Is also known as mucopolysaccharidosis-like plus disease

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Spasticity
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS

This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

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

Top 5 symptoms//phenotypes associated to Anemia and Thick vermilion border

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Macroglossia Uncommon - Between 30% and 50% cases
Thick lower lip vermilion Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Anemia and Thick vermilion border. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Flexion contracture Epicanthus Hepatomegaly Failure to thrive Microcephaly Global developmental delay Intellectual disability Thrombocytopenia Hepatosplenomegaly Telecanthus Anteverted nares Abnormal facial shape Microcytic anemia Flat face Wide nasal bridge Fever Arrhythmia Short nose Splenomegaly Congestive heart failure

Rare Symptoms - Less than 30% cases

Hyperhidrosis Patent ductus arteriosus Brachydactyly Optic atrophy Talipes equinovarus Midface retrusion Pain Constipation Autism Gastroesophageal reflux Atrial septal defect Ventricular septal defect Hydronephrosis Micrognathia Increased mean corpuscular volume Macrotia Everted lower lip vermilion Ambiguous genitalia Bone marrow hypocellularity Depressed nasal ridge Cryptorchidism Thick upper lip vermilion Behavioral abnormality Abnormality of the liver Hypertrophic cardiomyopathy Proteinuria Elevated hepatic transaminase Delayed myelination Abnormal heart morphology Recurrent infections Cerebral atrophy Short neck Abnormality of the genital system Abnormality of the skeletal system Feeding difficulties Muscular hypotonia Generalized hypotonia Neutropenia Protruding tongue Macrocytic anemia Sensorineural hearing impairment Long eyelashes Aganglionic megacolon Hip dislocation Dental malocclusion Respiratory insufficiency Abnormal hemoglobin Muscle weakness Lipodystrophy Neoplasm Skeletal muscle atrophy U-Shaped upper lip vermilion Increased antibody level in blood Cardiomegaly Recurrent urinary tract infections Erythema nodosum Clubbing of fingers Elevated erythrocyte sedimentation rate Spasticity Intellectual disability, mild Intrauterine growth retardation Abnormality of the face Prominent nose Abnormal pyramidal sign Reticulocytopenia Clinodactyly Arthralgia Volvulus Coarse facial features Tented upper lip vermilion Male pseudohermaphroditism Lymphadenopathy Joint stiffness Arthrogryposis multiplex congenita Skin rash Bone pain Conjunctivitis Thickened skin Brain atrophy Elbow flexion contracture Abnormal lung morphology Lymphopenia Cerebral calcification Joint contracture of the hand Hyperpigmentation of the skin Coarse hair Hypertriglyceridemia Wide nose Beaking of vertebral bodies Dysostosis multiplex Large forehead Flared iliac wings Tubular atrophy Macrovesicular hepatic steatosis J-shaped sella turcica Barrel-shaped chest Focal segmental glomerulosclerosis Obstructive lung disease Inability to walk Hypoplastic acetabulae Hepatic steatosis Edema Babinski sign Osteopenia Arthritis Glomerulosclerosis Erythema Scarring Camptodactyly of finger Acetabular dysplasia Low-set ears Growth abnormality Spastic diplegia Intellectual disability, moderate Irritability Postnatal growth retardation Microtia Tapered finger Renal agenesis Aspiration Coxa valga Hemivertebrae Drooling Infantile muscular hypotonia Radial deviation of finger Hydroureter Kyphoscoliosis Shawl scrotum Facial hypotonia Chronic constipation Decreased serum testosterone level Hypochromic microcytic anemia Perimembranous ventricular septal defect Ileus Absent frontal sinuses Triangular mouth Widely-spaced maxillary central incisors Reduced alpha/beta synthesis ratio Endometriosis Hemoglobin H Umbilical hernia Micropenis Glucose intolerance Stiff skin Long fingers Hypermelanotic macule Basal ganglia calcification Rimmed vacuoles Myositis Abnormally large globe Immune dysregulation Generalized lipodystrophy Flexion contracture of toe Hypochromic anemia Panniculitis Episcleritis Finger swelling Abdominal pain Adipose tissue loss Strabismus Abnormality of the foot Depressed nasal bridge Dysphagia Intellectual disability, severe Vomiting Hypertonia Malar flattening Abnormality of metabolism/homeostasis Hypospadias Pneumonia Posteriorly rotated ears Hirsutism Abnormal glycosylation Synophrys Cleft lip Chromosome breakage Stomach cancer Macrodontia Duodenal stenosis Ovarian carcinoma Cleft palate Fatigue Osteoporosis Retrognathia Pallor Proximal placement of thumb Autistic behavior Delayed puberty Cleft upper lip Bifid uvula Migraine Tetralogy of Fallot Mitral valve prolapse Ventricular hypertrophy Mitral regurgitation Short thumb Ovarian neoplasm Breast carcinoma Abnormality of the urinary system Abnormality of the Leydig cells Erythroid hypoplasia Pure red cell aplasia Arachnodactyly Subcutaneous nodule Hyperostosis Right bundle branch block Lipoatrophy Episodic fever Clubbing of toes Hearing impairment Narrow palate Delayed speech and language development Microphthalmia Upslanted palpebral fissure Conductive hearing impairment Carcinoma Sparse hair Blepharophimosis Prominent nasal bridge Hypopigmentation of the skin Low anterior hairline Melanoma Abnormality of the hand Pectus carinatum Dysphasia Cerebral cortical atrophy Abnormality of the kidney Feeding difficulties in infancy Spastic paraplegia Nausea and vomiting Abnormality of movement Hypoplasia of penis Encephalitis Self-injurious behavior Profound global developmental delay Clinodactyly of the 5th finger Abnormality of fontanelles Abnormality of the male genitalia Hyperreflexia Respiratory distress Cardiomyopathy Pectus excavatum Recurrent respiratory infections Prominent forehead Skeletal dysplasia Respiratory tract infection Agenesis of corpus callosum Depressivity Triphalangeal thumb Polyneuropathy Tracheomalacia Acute leukemia Esophagitis Cleft soft palate Fetal distress Persistence of hemoglobin F Diarrhea Areflexia Jaundice Abnormality of the pinna Dehydration Abnormality of the dentition Cholestasis Adducted thumb Abnormality of immune system physiology Inverted nipples Distal arthrogryposis Premature skin wrinkling Areflexia of lower limbs Mild proteinuria Myopia Blindness Hypoganglionosis


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