Anemia, and Macrocephaly

Diseases related with Anemia and Macrocephaly

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


Top matches:

Low match AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME


An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.

AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME Is also known as kcs|kenny-caffey syndrome, autosomal recessive

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME

Low match HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN


Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.

HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN Is also known as cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|sdchc|stomatin-deficient cryohydrocytosis|chc type 2|glut1 deficiency syndrome with pseudohyperkalemia an

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN

Low match KLIPPEL-TRÉNAUNAY SYNDROME


Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hepatomegaly
  • Macrocephaly
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about KLIPPEL-TRÉNAUNAY SYNDROME

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Other less relevant matches:

Low 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

Low 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

Low match JUVENILE POLYPOSIS SYNDROME; JPS


Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

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 CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Low match ICF SYNDROME


The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Low match MUCKLE-WELLS SYNDROME


Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).

MUCKLE-WELLS SYNDROME Is also known as neutrophilic urticaria

Related symptoms:

  • Short stature
  • Anemia
  • Hepatomegaly
  • Fever
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about MUCKLE-WELLS SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Macrocephaly

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Global developmental delay Abnormal facial shape Hepatosplenomegaly Edema Abdominal pain Fatigue Diarrhea Microcephaly Growth delay Hypertelorism

Rare Symptoms - Less than 30% cases


Neoplasm Hypokalemia Hydrocephalus Flat face Skin rash Jaundice Myalgia Colon cancer Clubbing Hypoalbuminemia Vomiting Frontal bossing Urticaria Congestive heart failure Gastrointestinal hemorrhage Malabsorption Abnormality of neutrophils Arthralgia Uveitis Optic atrophy Vasculitis Pain Progressive sensorineural hearing impairment Elevated erythrocyte sedimentation rate Fever Brachydactyly Macroglossia Hematochezia Hamartomatous polyposis Delayed skeletal maturation Hypocalcemia Umbilical hernia Depressed nasal bridge Anteverted nares Hypomagnesemia Delayed closure of the anterior fontanelle Cryptorchidism Skeletal dysplasia Arthritis Intestinal polyposis Cataract Clubbing of fingers Stomach cancer Broad-based gait Delayed eruption of teeth Talipes equinovarus Intellectual disability, moderate Hip dislocation Motor delay Cognitive impairment Sensorineural hearing impairment Visual impairment Hepatic vascular malformations Adenocarcinoma of the colon Blindness Duodenal adenocarcinoma Proptosis Multiple gastric polyps Intussusception Melena EEG abnormality Hematemesis Hearing impairment Increased T3/T4 ratio Omphalocele Coxa vara Clumsiness Limb undergrowth Hypothyroidism Constipation Hoarse voice Increased body weight Congenital hip dislocation Wormian bones Hypercholesterolemia No permanent dentition Relative macrocephaly Elevated serum creatine phosphokinase Congenital hypothyroidism Drowsiness Dry skin Joint laxity Dilatation Thyroid hormone receptor defect Cardiomyopathy Long thorax Leukocytosis Papule Agammaglobulinemia Impaired T cell function Decrease in T cell count Abnormality of chromosome stability Cellular immunodeficiency Chronic bronchitis Communicating hydrocephalus Shawl scrotum Pes cavus Protruding tongue Bronchitis Combined immunodeficiency Malnutrition Recurrent pneumonia Lymphopenia Abnormality of metabolism/homeostasis Glaucoma Bronchiectasis Abnormality of the voice Hernia of the abdominal wall Episcleritis Recurrent aphthous stomatitis Abnormality of the nose Broad foot Restrictive ventilatory defect Abnormal palate morphology Camptodactyly of finger Cranial nerve paralysis Conjunctivitis Abnormality of the genital system Nephrotic syndrome Nephropathy Ichthyosis Delayed puberty Sinusitis Otitis media Nausea and vomiting Reduced bone mineral density Abnormal thrombocyte morphology Juvenile rheumatoid arthritis Amyloidosis Arthropathy Abnormal joint morphology Hemoptysis Increased intracranial pressure Inflammatory abnormality of the eye Purpura Joint dislocation Meningitis Overgrowth Premature birth Migraine Lymphadenopathy Elevated C-reactive protein level Pseudopapilledema Decreased antibody level in blood Hypospadias Sepsis Neurodegeneration Respiratory tract infection High forehead Recurrent respiratory infections Pneumonia Recurrent infections Retrobulbar optic neuritis Immunodeficiency Malar flattening Short nose Epicanthus Low-set ears Micrognathia Abnormal granulocyte morphology Rectal prolapse Glossitis Polycythemia Atrial septal defect Spastic paraplegia Paraplegia Inability to walk Hemolytic anemia Delayed myelination Hyperbilirubinemia Hyperkalemia Broad neck Conjugated hyperbilirubinemia Stomatocytosis Hemoglobinuria Zonular cataract Hypoglycorrhachia Respiratory insufficiency Patent ductus arteriosus Absent speech Hematuria Ascites Tall stature Hydrops fetalis Venous thrombosis Hemangioma Prolonged bleeding time Microcytic anemia Cellulitis Pulmonary embolism Abnormality of the skull Hypercoagulability Lower limb asymmetry Venous insufficiency Macrotia Hypertonia Abnormality of the menstrual cycle Decreased skull ossification Intrauterine growth retardation Postnatal growth retardation Carious teeth Short palm Small hand Short foot Full cheeks Recurrent bacterial infections Delayed cranial suture closure Slender long bone Thin ribs Proportionate short stature Hypoparathyroidism Severe postnatal growth retardation Tetany Hyperreflexia Generalized tonic seizures Long clavicles Hypocalcemic seizures Hypocalcemic tetany Birth length less than 3rd percentile Thin clavicles Cortical thickening of long bone diaphyses Congenital hypoparathyroidism Thin long bone diaphyses Stenosis of the medullary cavity of the long bones Calvarial osteosclerosis Ataxia Nystagmus Spasticity Abnormality of the pulmonary artery Abnormal tricuspid valve morphology Hamartoma Decreased taste sensation Hypoplastic toenails Aplasia/Hypoplasia of the eyebrow Sparse body hair Generalized hyperpigmentation Thromboembolism Xerostomia Abnormality of the vasculature Dystrophic toenail Furrowed tongue Dystrophic fingernails Protein-losing enteropathy Peripheral edema Patchy alopecia Gastrointestinal carcinoma Hypertension Abnormal intestine morphology Respiratory distress Headache Hernia Dyspnea Carcinoma Stroke Cough Vertigo Chest pain Cyanosis Epistaxis Telangiectasia Diplopia Portal hypertension Cachexia Abnormality of the fingernails Upper limb asymmetry Leukopenia Internal hemorrhage Peripheral arteriovenous fistula Abnormality of skeletal morphology Strabismus Feeding difficulties Gait disturbance Hypoplasia of the corpus callosum Thrombocytopenia Prominent forehead Facial palsy Irritability Triangular face Brain atrophy Short chin Short femoral neck Hyperpigmentation of the skin Nail dystrophy Lymphedema Anorexia Nail dysplasia Tapered finger Abnormality of skin pigmentation Paresthesia Autoimmunity Osteopetrosis Weight loss Alopecia Muscle weakness Increased density of long bones Uncontrolled eye movements Increased head circumference Renal amyloidosis



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