Frontal bossing, and Hemolytic anemia

Diseases related with Frontal bossing and Hemolytic anemia

In the following list you will find some of the most common rare diseases related to Frontal bossing and Hemolytic anemia that can help you solving undiagnosed cases.

Top matches:

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

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8

Other less relevant matches:

Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.

ROTHMUND-THOMSON SYNDROME TYPE 2 Is also known as poikiloderma of rothmund-thomson type 2|rts2

Related symptoms:

  • Growth delay
  • Cataract
  • Anemia
  • Frontal bossing
  • Diarrhea


SOURCES: ORPHANET MENDELIAN

More info about ROTHMUND-THOMSON SYNDROME TYPE 2

Medium 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

Medium match PYCNODYSOSTOSIS

Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012). Genetic Heterogeneity of Autosomal Recessive OsteopetrosisOther forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (OMIM ), which is caused by mutation in the CLCN7 gene (OMIM ) on chromosome 16p13, and OPTB5 (OMIM ), which is caused by mutation in the OSTM1 gene (OMIM ) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2 ) is caused by mutation in the TNFSF11 gene (OMIM ) on chromosome 13q14, an intermediate form (OPTB6 ) is caused by mutation in the PLEKHM1 gene (OMIM ) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7 ) is caused by mutation in the TNFRSF11A gene (OMIM ) on chromosome 18q22. Another form of autosomal recessive osteopetrosis (OPTB8 ) is caused by mutation in the SNX10 gene (OMIM ) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3 ) is caused by mutation in the CA2 gene (OMIM ) on chromosome 8q21.Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, {607634}).

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1 Is also known as marble bones, autosomal recessive|osteopetrosis, infantile malignant 1|albers-schonberg disease, autosomal recessive

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1

Medium match SYNDROMIC DIARRHEA

Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr|atr syndrome, deletion type|alpha thalassemia-mental retardation syndrome|mental retardation with hemoglobin h|alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/mental retardation syndrome, deletion-type|atr, deletio

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

Top 5 symptoms//phenotypes associated to Frontal bossing and Hemolytic anemia

Symptoms // Phenotype % cases
Anemia Very Common - Between 80% and 100% cases
Hepatomegaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Proptosis Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Frontal bossing and Hemolytic anemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Macrocephaly Short stature Prominent forehead Splenomegaly Intellectual disability Anteverted nares Depressed nasal bridge Growth delay Seizures High forehead Skeletal dysplasia Edema Abnormal facial shape Microcephaly Brachydactyly Optic atrophy Hearing impairment Hydrocephalus Osteopetrosis

Rare Symptoms - Less than 30% cases

Recurrent upper respiratory tract infections Hypochromic anemia Blindness Long philtrum Fatigue Downslanted palpebral fissures Increased intracranial pressure Wide nasal bridge Osteosarcoma Low-set ears Brittle hair Nausea and vomiting Diarrhea Premature birth Macroglossia Protruding tongue Pancytopenia Underdeveloped supraorbital ridges Increased bone mineral density Short toe Abnormality of the face Broad forehead Microtia Short neck Carious teeth Abnormal thrombocyte morphology Osteoporosis Malar flattening Kyphosis Abnormality of the skeletal system Cognitive impairment Micrognathia Hernia Osteomyelitis Cataract Hypertelorism Osteopenia Small for gestational age Anisopoikilocytosis Feeding difficulties Thrombocytopenia Facial palsy Hepatic failure Short distal phalanx of finger Talipes Talipes equinovarus Microcytic anemia Sparse hair Abnormality of the liver Sensorineural hearing impairment Leukopenia Elevated hepatic transaminase Peripheral pulmonary artery stenosis Intermittent diarrhea Increased mean platelet volume Trichorrhexis nodosa Villous atrophy Abnormality of the pancreas Hyperactivity Brain neoplasm Large forehead Woolly hair Thrombocytosis Intractable diarrhea Hypergalactosemia Myelomeningocele Secretory diarrhea Behavioral abnormality Increased serum iron Supernumerary nipple Aplasia/Hypoplasia of the eyebrow Renal cortical microcysts Aplasia/Hypoplasia of the earlobes Humoral immunodeficiency Galactosuria Abnormality of iron homeostasis Large placenta Abnormalities of placenta or umbilical cord Inguinal hernia Hypermethioninemia Hypochromic microcytic anemia Iron deficiency anemia Polyhydramnios Flat forehead Reduced alpha/beta synthesis ratio Wide mouth Respiratory tract infection Abnormality of the pinna Jaundice Narrow mouth Delayed puberty Abnormal heart morphology Hemoglobin H Immunodeficiency Ventricular septal defect Intrauterine growth retardation Triangular nasal tip Pulmonic stenosis Dry skin Curly hair Chronic diarrhea Abnormality of the immune system Hypoalbuminemia Dyspnea Aortic regurgitation Abnormality of the hair Hepatic fibrosis Asymmetry of the thorax Cirrhosis Depressed nasal ridge Fine hair Tetralogy of Fallot Aciduria Bifid uvula Sepsis Wide nose Mandibular prognathia Patent ductus arteriosus Kyphoscoliosis Morphological abnormality of the central nervous system Intervertebral space narrowing Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Short digit Urinary glycosaminoglycan excretion Heparan sulfate excretion in urine Abnormality of the kidney Dysplastic aortic valve Pectus carinatum Obstructive lung disease J-shaped sella turcica Neurological speech impairment Congenital cataract Abnormality of the optic disc Focal seizures, afebril Localized skin lesion Inspiratory stridor Intellectual disability, moderate Hypospadias Obesity Respiratory distress Micropenis Retrognathia Epicanthus High palate Abnormality of nasopharyngeal adenoids Flexion contracture Low-set, posteriorly rotated ears Ptosis Cryptorchidism Muscular hypotonia Neoplasm Hyperplasia of the maxilla Thoracolumbar kyphosis Coarse facial features Tachycardia Dental crowding Abnormality of the cardiovascular system Cyanosis Limitation of joint mobility Spina bifida Ascites Joint stiffness Pulmonary arterial hypertension Postnatal growth retardation Developmental regression Aggressive behavior Polycystic kidney dysplasia Umbilical hernia Radial deviation of finger Mitral valve prolapse Recurrent otitis media Increased mean corpuscular volume Protuberant abdomen Communicating hydrocephalus Beaking of vertebral bodies Bruising susceptibility Edema of the lower limbs Sandwich appearance of vertebral bodies Insomnia Distal arthrogryposis Mitral regurgitation Webbed neck Abnormality of the genital system Pericardial effusion Heart murmur Tachypnea Progressive hearing impairment Thickened skin Abnormality of the skull Abnormal pattern of respiration Secondary hyperparathyroidism Hypoplasia of teeth Arthritis Myalgia EEG abnormality Arthralgia Fever Visual impairment Concave nasal ridge Papule Poikiloderma Absent eyelashes Prematurely aged appearance Basal cell carcinoma Squamous cell carcinoma Absent eyebrow Myelodysplasia Skin rash Lymphadenopathy Short thumb Elevated erythrocyte sedimentation rate Juvenile rheumatoid arthritis Uveitis Amyloidosis Arthropathy Abnormal joint morphology Progressive sensorineural hearing impairment Leukocytosis Migraine Urticaria Reduced bone mineral density Purpura Joint dislocation Vasculitis Meningitis Overgrowth Hypoplasia of the radius Cutaneous photosensitivity Elevated C-reactive protein level Acute hepatic failure Sparse and thin eyebrow Hypopigmentation of the skin Telecanthus Severe short stature Recurrent infections Long toe Macrocytic anemia Profound global developmental delay Long fingers Abnormality of the coagulation cascade Delayed gross motor development Full cheeks Hepatic steatosis Lactic acidosis Generalized hypotonia Hypopigmented skin patches Spotty hypopigmentation Microdontia Increased head circumference Palmoplantar keratoderma Neutropenia Hypotrichosis Nail dystrophy Hypogonadism Increased density of long bones Uncontrolled eye movements Short femoral neck Strabismus Short chin Brain atrophy Triangular face Irritability Vomiting Hypoplasia of the corpus callosum Gait disturbance Delayed closure of the anterior fontanelle Inflammatory abnormality of the eye Progressive macrocephaly Delayed eruption of primary teeth Abnormal pelvis bone ossification Persistent open anterior fontanelle Osteolytic defects of the distal phalanges of the hand Spondylolysis Snoring Absent frontal sinuses Delayed eruption of permanent teeth Visual loss Persistence of primary teeth Low back pain Small face Ridged nail Spondylolisthesis Osteolytic defects of the phalanges of the hand Abnormality of the clavicle Nystagmus Acidosis Agenesis of permanent teeth Hyperparathyroidism Extramedullary hematopoiesis Tetany Facial paralysis Choanal stenosis Retinal atrophy Renal tubular acidosis Pathologic fracture Decreased antibody level in blood Flared metaphysis Ophthalmoparesis Elevated alkaline phosphatase Coxa vara Hypocalcemia Bone marrow hypocellularity Aganglionic megacolon Abnormality of the vertebral column Prominent occiput Abnormality of neutrophils Apnea Postural instability Recurrent fractures Delayed eruption of teeth Narrow chest Craniosynostosis Hyperlordosis Brachycephaly Hypoplasia of the maxilla Midface retrusion Abnormality of the dentition Pain Scoliosis Abnormal granulocyte morphology Retrobulbar optic neuritis Pseudopapilledema Hypodontia Prominent nose Abnormality of dental morphology Narrow palate Abnormality of the thorax Back pain Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Sleep apnea Osteolysis Abnormality of the fingernails Wormian bones Growth hormone deficiency Abnormality of the nail Bone pain Abnormal vertebral morphology Abnormality of epiphysis morphology Small nail Blue sclerae Abnormality of the skin Neurocytoma


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