Frontal bossing, and Splenomegaly

Diseases related with Frontal bossing and Splenomegaly

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

Top matches:

Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8

Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.

POIKILODERMA WITH NEUTROPENIA Is also known as poikiloderma with neutropenia, clericuzio type|poikiloderma with neutropenia, clericuzio-type

Related symptoms:

  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about POIKILODERMA WITH NEUTROPENIA

Other less relevant matches:

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

The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

High match SIALIDOSIS TYPE 1

Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.

SIALIDOSIS TYPE 1 Is also known as cherry-red spot-myoclonus syndrome|normomorphic sialidosis|lipomucopolysaccharidosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about SIALIDOSIS TYPE 1

High 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

High match OPSISMODYSPLASIA

Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OPSISMODYSPLASIA

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

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

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Seizures Skeletal dysplasia Prominent forehead Anemia Intellectual disability Brachydactyly Hearing impairment Carious teeth Hydrocephalus Dysostosis multiplex Generalized hypotonia Osteopetrosis Depressed nasal bridge Hypertelorism Proptosis Failure to thrive Low-set ears Coarse facial features Scoliosis Respiratory failure

Rare Symptoms - Less than 30% cases

Abnormality of epiphysis morphology Short nose Malar flattening Midface retrusion Recurrent respiratory infections Osteomyelitis Respiratory tract infection Skin rash Pain Cognitive impairment Recurrent pneumonia EEG abnormality Wide nasal bridge Narrow chest Protuberant abdomen Sleep apnea Long philtrum Hyperactivity Sensorineural hearing impairment Visual impairment Increased bone mineral density Synophrys Blindness Muscular hypotonia Blue sclerae Edema Hyperkeratosis Cataract Joint stiffness Optic atrophy Gait disturbance Asthma Short chin Wide mouth Feeding difficulties Delayed skeletal maturation Facial palsy Thick lower lip vermilion Prominent occiput Kyphosis Nystagmus Diarrhea Chronic diarrhea Relative macrocephaly Short neck Anteverted nares Abnormality of the face Bone pain Neurological speech impairment Small nail Corneal opacity Abnormal vertebral morphology Abnormality of the nail Short toe Pectus carinatum Retinopathy Myoclonus Wormian bones Narrow palate Abnormality of the fingernails Hernia Osteolysis Abnormality of pelvic girdle bone morphology Tremor Increased susceptibility to fractures Back pain Abnormality of movement Abnormal form of the vertebral bodies Progressive visual loss Hyperlordosis Micrognathia Abnormality of the skeletal system Increased urinary O-linked sialopeptides Cherry red spot of the macula Abnormality of the dentition Vascular skin abnormality Short thorax Osteoporosis Brachycephaly High forehead Apnea Craniosynostosis Abnormality of the skin Decreased nerve conduction velocity Slurred speech Short distal phalanx of finger Delayed eruption of teeth Recurrent fractures Postural instability Hypodontia Hypoplasia of the maxilla Aminoaciduria Prominent nose Urinary excretion of sialylated oligosaccharides Growth hormone deficiency Abnormality of the thorax Platyspondyly Abnormality of dental morphology Anterior rib cupping Visual loss Posterior rib cupping Severe platyspondyly Squared iliac bones Abnormally ossified vertebrae Hypoplastic pubic bone Vertebral hypoplasia Decreased antibody level in blood Hypoplastic vertebral bodies Hypoplastic ischia Renal phosphate wasting Metaphyseal cupping Flat acetabular roof Delayed epiphyseal ossification Bell-shaped thorax Acidosis Pancytopenia Flat occiput Renal tubular acidosis Secondary hyperparathyroidism Progressive macrocephaly Extramedullary hematopoiesis Tetany Facial paralysis Choanal stenosis Retinal atrophy Hyperparathyroidism Aganglionic megacolon Pathologic fracture Flared metaphysis Ophthalmoparesis Elevated alkaline phosphatase Coxa vara Hypocalcemia Bone marrow hypocellularity Hypophosphatemia Metaphyseal irregularity Agenesis of permanent teeth Persistence of primary teeth Osteolytic defects of the distal phalanges of the hand Spondylolysis Snoring Absent frontal sinuses Delayed eruption of primary teeth Delayed eruption of permanent teeth Abnormal pattern of respiration Abnormal pelvis bone ossification Low back pain Small face Ridged nail Spondylolisthesis Osteolytic defects of the phalanges of the hand Abnormality of the clavicle Abnormality of the vertebral column Persistent open anterior fontanelle Respiratory insufficiency Prominent supraorbital ridges Limb undergrowth Short long bone Disproportionate short-limb short stature Wide anterior fontanel Rhizomelia Large fontanelles Broad thumb Abnormality of the metaphysis Short metacarpal Pectus excavatum Tapered finger Short foot Small hand Short palm Micromelia Polyhydramnios Severe short stature Skeletal muscle atrophy Prolonged prothrombin time Muscle weakness Fatigue Eczema Cutaneous photosensitivity Recurrent otitis media Conjunctivitis Myelodysplasia Increased antibody level in blood Atrophic scars Wheezing Blepharitis Osteosarcoma Poikiloderma Subungual hyperkeratosis Growth delay Fever Arthralgia Palmoplantar keratoderma Myalgia Arthritis Papule Nausea and vomiting Lymphadenopathy Migraine Premature birth Overgrowth Meningitis Vasculitis Joint dislocation Purpura Increased intracranial pressure Reduced bone mineral density Otitis media Neutropenia Leukocytosis Strabismus Clinodactyly Posteriorly rotated ears Diabetes mellitus Hypothyroidism Camptodactyly Autoimmunity Dolichocephaly Malabsorption Hepatitis Abnormal lung morphology Type I diabetes mellitus Abnormal intestine morphology Chronic lung disease Interstitial pneumonitis Hypoplasia of the corpus callosum Nail dystrophy Vomiting Thrombocytopenia Irritability Triangular face Brain atrophy Leukopenia Short femoral neck Increased head circumference Uncontrolled eye movements Increased density of long bones Alopecia Pneumonia Mandibular prognathia Cough Urticaria Elevated erythrocyte sedimentation rate Ataxia Difficulty walking Hypoplastic nipples Episodic abdominal pain Upper airway obstruction Prolonged partial thromboplastin time Periorbital fullness Abnormality of the mitochondrion Long hallux Spinal deformities Expressive language delay Flexion contracture Dysarthria Dysphagia Behavioral abnormality Absent speech Aggressive behavior 2-3 toe syndactyly Thick eyebrow Hirsutism Sleep disturbance Hypertrichosis Progressive hearing impairment Drooling Recurrent upper respiratory tract infections Coarse hair Growth abnormality Asymmetric septal hypertrophy Heparan sulfate excretion in urine Thickened ribs Ovoid thoracolumbar vertebrae Cellular metachromasia Thoracic hypoplasia Cholelithiasis Progressive sensorineural hearing impairment Epicanthus Abnormal joint morphology Arthropathy Amyloidosis Uveitis Juvenile rheumatoid arthritis Abnormal thrombocyte morphology Delayed closure of the anterior fontanelle Elevated C-reactive protein level Inflammatory abnormality of the eye Abnormality of neutrophils Pseudopapilledema Retrobulbar optic neuritis Abnormal granulocyte morphology High palate Intellectual disability, mild Hyperkinesis Joint hypermobility Generalized hirsutism Hoarse voice Low posterior hairline Memory impairment Macroglossia High, narrow palate Smooth philtrum Abnormality of metabolism/homeostasis Attention deficit hyperactivity disorder Developmental regression Elevated hepatic transaminase Thin upper lip vermilion Abdominal pain Inguinal hernia Sandwich appearance of vertebral bodies


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