Frontal bossing, and Hepatosplenomegaly

Diseases related with Frontal bossing and Hepatosplenomegaly

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


Top matches:

High match MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME


Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME

High 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

High match MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME


A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Neoplasm
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME

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Other less relevant matches:

High match ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT


Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Delayed speech and language development
  • Frontal bossing
  • Diarrhea


SOURCES: OMIM MESH MENDELIAN

More info about ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

High match OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1; OPTB1


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

High match ALG9-CDG


ALG9-CDG is a form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis (see this term). The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).

ALG9-CDG Is also known as cdg syndrome type il|cdg-il|carbohydrate deficient glycoprotein syndrome type 1l|cdg il|cdgil|congenital disorder of glycosylation type 1l|cdg1l|mannosyltransferase 7-9 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALG9-CDG

High 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

High match SIALURIA


Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

High match MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM


Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.

MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM Is also known as iduronate 2-sulfatase deficiency type b|mucopolysaccharidosis type ii, attenuated form|mucopolysaccharidosis type iib|mps2b|mpsiib|hunter syndrome type b|mucopolysaccharidosis type 2b

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM

High match ALBERS-SCHÖNBERG OSTEOPETROSIS


Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

Top 5 symptoms//phenotypes associated to Frontal bossing and Hepatosplenomegaly

Symptoms // Phenotype % cases
Macrocephaly Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Pneumonia Hypertelorism Splenomegaly Anemia Failure to thrive Immunodeficiency Facial palsy Arthritis Hydrocephalus Prominent forehead Optic atrophy Wide nasal bridge Growth delay Pancytopenia Long philtrum Edema Short stature Hearing impairment Blindness Osteopetrosis Generalized hypotonia Recurrent infections Mandibular prognathia Abnormal facial shape

Rare Symptoms - Less than 30% cases


Decreased antibody level in blood Osteomyelitis Lymphadenopathy Attention deficit hyperactivity disorder Facial paralysis Hoarse voice Hypocalcemia Ectodermal dysplasia Protuberant abdomen Leukocytosis Rhinitis Osteoarthritis Expressive language delay Nystagmus Visual loss Carious teeth Cognitive impairment Increased bone mineral density Low-set ears Bone marrow hypocellularity Skeletal dysplasia Extramedullary hematopoiesis Short nose Proptosis Gait disturbance Strabismus Intellectual disability, mild Fever Scoliosis Thrombocytopenia Joint dislocation Inguinal hernia Brain atrophy Feeding difficulties Delayed speech and language development Depressed nasal bridge Increased head circumference High palate Visual impairment Sensorineural hearing impairment Coarse facial features Abnormal granulocyte morphology Spinal deformities Pectus carinatum Postnatal growth retardation Conductive hearing impairment Epicanthus Pain Pseudopapilledema Retrobulbar optic neuritis Umbilical hernia Short neck Abnormality of neutrophils Inflammatory abnormality of the eye Long hallux Delayed closure of the anterior fontanelle Abnormal thrombocyte morphology Congestive heart failure Juvenile rheumatoid arthritis Elevated C-reactive protein level Upper airway obstruction Prolonged prothrombin time Abdominal pain Thin upper lip vermilion Elevated hepatic transaminase Developmental regression Smooth philtrum Joint hypermobility Hyperactivity High, narrow palate Macroglossia Memory impairment Low posterior hairline Generalized hirsutism Abnormality of the mitochondrion Sleep apnea Hyperkinesis Cholelithiasis 2-3 toe syndactyly Thoracic hypoplasia Hypoplastic nipples Abnormality of metabolism/homeostasis Episodic abdominal pain Dysostosis multiplex Prolonged partial thromboplastin time Periorbital fullness Synophrys Papilledema Hirsutism Cranial nerve paralysis Abnormality of the skeletal system Abnormality of the dentition Dilatation Paralysis Genu valgum Short distal phalanx of finger Neurodegeneration Recurrent fractures Abnormality of the metaphysis Recurrent urinary tract infections Abnormality of epiphysis morphology Lymphedema Bone pain Abnormality of the metacarpal bones Micrognathia Abnormality of pelvic girdle bone morphology Increased susceptibility to fractures Hyperostosis Aseptic necrosis Abnormal cranial nerve morphology Generalized osteosclerosis Fractures of the long bones Hip osteoarthritis Cranial hyperostosis Lumbar scoliosis Abnormal leukocyte morphology Elevated serum acid phosphatase Tooth abscess Mandibular osteomyelitis Muscle weakness Ridged cranial sutures Full cheeks Clubbing of fingers Urinary incontinence Prominent nose Abnormality of the skin Otitis media Abnormality of the cardiovascular system Thickened skin Widely spaced teeth Prominent supraorbital ridges Multiple joint contractures Bowel incontinence Short finger Abnormal heart valve morphology Amyloidosis Abnormality of the skull Thoracolumbar kyphosis Abnormality of the Eustachian tube Wrist flexion contracture Mucopolysacchariduria Flared nostrils Thenar muscle atrophy Obstructive lung disease Heparan sulfate excretion in urine Functional motor deficit Abnormality of mucopolysaccharide metabolism Dermatan sulfate excretion in urine Tonsillitis Recurrent upper and lower respiratory tract infections Incisional hernia Restricted chest movement Abnormality of nasopharyngeal adenoids Uveitis Global brain atrophy Arthropathy Hypohidrosis Severe combined immunodeficiency Postnatal macrocephaly Diarrhea Recurrent respiratory infections Respiratory tract infection Sparse hair Dry skin Hypodontia Fine hair Sparse scalp hair Chronic diarrhea Bronchiectasis Anhidrosis Combined immunodeficiency Agammaglobulinemia Heat intolerance Conical tooth Concave nasal ridge Lymphocytosis Anhidrotic ectodermal dysplasia Recurrent infection of the gastrointestinal tract Periorbital wrinkles Aplasia of the sweat glands Defective production of NFKB1-dependent cytokines Acidosis Aganglionic megacolon Coxa vara Biparietal narrowing Lymphopenia Ophthalmoparesis Scaphocephaly Downslanted palpebral fissures Clinodactyly Clinodactyly of the 5th finger Retrognathia Anxiety Aggressive behavior Craniosynostosis Broad nasal tip Stereotypy Recurrent pneumonia Finger clinodactyly Microretrognathia Hypoplasia of the corpus callosum Broad forehead Vomiting Irritability Triangular face Short chin Leukopenia Short femoral neck Uncontrolled eye movements Increased density of long bones Neoplasm Midface retrusion Obesity Autism Autistic behavior Elevated alkaline phosphatase Flared metaphysis Abnormal joint morphology Myalgia Tricuspid regurgitation Cutis marmorata Pericardial effusion Aplasia cutis congenita Inverted nipples Central hypotonia Nonimmune hydrops fetalis Delayed CNS myelination Brachydactyly Fatigue Arthralgia EEG abnormality Skin rash Hydrops fetalis Papule Nausea and vomiting Migraine Premature birth Overgrowth Meningitis Vasculitis Purpura Increased intracranial pressure Reduced bone mineral density Urticaria Elevated erythrocyte sedimentation rate Progressive sensorineural hearing impairment Lipodystrophy Broad thumb Pathologic fracture Kyphosis Hyperparathyroidism Renal tubular acidosis Retinal atrophy Choanal stenosis Tetany Progressive macrocephaly Secondary hyperparathyroidism Sandwich appearance of vertebral bodies Microcephaly Muscular hypotonia Hyperreflexia Atrial septal defect Cerebellar atrophy Encephalopathy Decreased fetal movement Delayed skeletal maturation Brachycephaly Wide mouth Abnormal cardiac septum morphology Hip dislocation Poor speech Hepatic failure Ascites Asthma Delayed myelination Esotropia Wide intermamillary distance Epileptic encephalopathy Abnormality of the vertebral endplates



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