Frontal bossing, and Abdominal pain

Diseases related with Frontal bossing and Abdominal pain

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


Top matches:

High match PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME


Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.

PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME Is also known as ruijs-aalfs syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION 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 ATELOSTEOGENESIS, TYPE I; AO1


Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER


Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

High match ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS


Autosomal recessive Robinow syndrome is a severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia (summary by van Bokhoven et al., 2000). Genetic Heterogeneity of Robinow SyndromeSee also autosomal dominant Robinow syndrome-1 (DRS1 ), caused by mutation in the WNT5A gene (OMIM ) on chromosome 3p; DRS2 (OMIM ), caused by mutation in the DVL1 gene (OMIM ) on chromosome 1p36; and DRS3 (OMIM ), caused by mutation in the DVL3 gene (OMIM ) on chromosome 3q27.

ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS Is also known as costovertebral segmentation defect with mesomelia, formerly|covesdem syndrome, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS

High match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

High match HURLER SYNDROME


Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

Medium match HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME; HADDTS


Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Feeding difficulties
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME; HADDTS

Medium match FG SYNDROME 2; FGS2


Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 2; FGS2

Top 5 symptoms//phenotypes associated to Frontal bossing and Abdominal pain

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Abnormal facial shape Growth delay Seizures Global developmental delay Deeply set eye Proptosis Wide nasal bridge Failure to thrive Constipation Feeding difficulties Delayed speech and language development Flexion contracture Hepatosplenomegaly Prominent forehead Splenomegaly Long philtrum Vomiting Inguinal hernia Short stature Hyperactivity Coarse facial features Long eyelashes Macroglossia Inability to walk Hepatomegaly Pneumonia Microcephaly Cryptorchidism Depressivity Depressed nasal bridge Brachydactyly Abnormality of the skeletal system Skeletal dysplasia Short neck Kyphoscoliosis Retrognathia Pectus excavatum Neoplasm Cataract Low-set ears Cognitive impairment

Rare Symptoms - Less than 30% cases


Poor speech Hyperlordosis Visual loss Hydrocephalus Gastroesophageal reflux Mandibular prognathia Abnormality of the dentition Brachycephaly Severe short stature Recurrent respiratory infections Anteverted nares Glaucoma Carious teeth Abnormality of the ribs Motor delay Exotropia Calcification of falx cerebri Relative macrocephaly Thoracic scoliosis Midface retrusion Malar flattening Short nose Nausea Generalized myoclonic seizures Abdominal distention Limitation of joint mobility Downslanted palpebral fissures Umbilical hernia Wide mouth Wide nose Gingival overgrowth Abnormal vertebral morphology Hemivertebrae Vertebral fusion Peripheral visual field loss Colitis Hearing impairment Papule Hernia Nyctalopia Pallor Headache Strabismus Diarrhea Disproportionate short-limb short stature Recurrent pneumonia Muscle stiffness Encephalocele Lumbar hyperlordosis Limb undergrowth Large forehead Ataxia Hyperkinesis High, narrow palate Posterior subcapsular cataract Subcapsular cataract Sleep apnea Synophrys Delayed skeletal maturation Protuberant abdomen Clinodactyly Down-sloping shoulders Generalized hirsutism Kyphosis Upper airway obstruction Elevated hepatic transaminase Dysostosis multiplex Decreased body weight Epicanthus Spasticity Elbow flexion contracture Skeletal muscle atrophy Cleft palate Thin upper lip vermilion Carcinoma Tremor Genu valgum Dry skin Cardiomegaly Abnormality of the cardiovascular system Retinal degeneration Microdontia Abnormality of skin pigmentation Progressive visual loss Thick vermilion border Hip dysplasia Hirsutism Asthma Everted lower lip vermilion Full cheeks Broad nasal tip Delayed eruption of teeth Thick eyebrow Sleep disturbance Neurodegeneration Abnormality of the skin Mandibular condyle hypoplasia Underdeveloped superior crus of antihelix Abnormality of epiphysis morphology Widely spaced teeth Cerebral palsy Aortic regurgitation Coxa vara Neonatal hypotonia Opacification of the corneal stroma Abnormality of the pinna Abnormality of dental enamel Spastic paraparesis Protruding ear Anteriorly placed anus Coxa valga Thickened skin Intellectual disability, profound Chronic diarrhea Left ventricular hypertrophy Abnormal form of the vertebral bodies Frontal upsweep of hair Mitral regurgitation Split hand Recurrent otitis media Hypertrichosis Dolichocephaly Progressive neurologic deterioration Myocardial infarction Interphalangeal joint contracture of finger Abnormality of eye movement Craniosynostosis Severe global developmental delay Severe hydrocephalus Bridged sella turcica Plantar pits Ovarian fibroma Delayed gross motor development Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma Orbital cyst Palmar pits Short distal phalanx of the thumb Multiple impacted teeth Irregular ossification of hand bones Ovarian carcinoma Parietal bossing Vertebral wedging Abnormality of the sense of smell Fibroma Hamartomatous polyposis Cervical ribs Supernumerary ribs Ectopic calcification Medulloblastoma Astrocytoma Brain neoplasm Cardiac fibroma Hamartomatous stomach polyps Corneal opacity Apnea Pectus carinatum Stroke Abnormal pyramidal sign Camptodactyly of finger Microtia Retinopathy Corneal dystrophy Joint stiffness Broad forehead Mental deterioration Neurological speech impairment Long face Conductive hearing impairment Sensorineural hearing impairment Delayed myelination Focal-onset seizure Osteopenia Dyspnea Pes cavus Arrhythmia Behavioral abnormality Congestive heart failure Edema Cardiomyopathy Respiratory insufficiency Hypertension Muscular hypotonia Progressive hearing impairment Language impairment Hyperammonemia Anterior rib cupping Cervical myelopathy Abnormality of the middle ear ossicles Enlargement of the wrists Abnormal hand morphology Stiff interphalangeal joints Heparan sulfate excretion in urine Hip subluxation Atlantoaxial dislocation Abnormality of the gingiva Abnormal mandible coronoid process morphology J-shaped sella turcica Prominent sternum Large sella turcica Abnormality of the tympanic membrane Flared nostrils Narrow pelvis bone Meckel diverticulum Anterior open bite Abnormal nerve conduction velocity Difficulty standing Sclerosis of skull base Large face Mucopolysacchariduria Biconcave vertebral bodies Chronic rhinitis Retinal fold Recurrent ear infections Calvarial hyperostosis Thoracolumbar kyphoscoliosis Diaphyseal thickening Proximal tapering of metacarpals Flaring of rib cage Cervical subluxation Broad ischia Hypoplastic cervical vertebrae Abnormality of joint mobility Delayed tarsal ossification Thick skull base Deformed humerus Enlarged tonsils C1-C2 subluxation Abnormality of the tonsils Enlarged vertebral pedicles Hypoplasia of the femoral head Hernia of the abdominal wall Abnormality of the pubic bone Bullet-shaped phalanges of the hand Abnormality of mucopolysaccharide metabolism Dermatan sulfate excretion in urine Lumbar kyphosis Abnormal CNS myelination Cervical kyphosis Broad long bone diaphyses Short mandibular rami Abnormality of the wing of the ilium Increased size of nasopharyngeal adenoids Abnormality of glycosaminoglycan metabolism Urinary glycosaminoglycan excretion Abnormal diaphysis morphology Delayed ossification of carpal bones Increased intracranial pressure Abnormal heart valve morphology Recurrent lower respiratory tract infections Abnormality of the elbow Shallow orbits Palpebral edema Hypoplasia of the odontoid process Gait ataxia Short clavicles Protruding tongue Rhinitis Spinal canal stenosis Arthropathy Thickened calvaria Restrictive ventilatory defect Abnormality of the skull Coronary artery atherosclerosis Flared metaphysis Multiple joint contractures Metatarsus adductus Toe walking Heart murmur Abnormal heart morphology Stridor Abnormality of lysosomal metabolism Hemiplegia Back pain Prominent supraorbital ridges Recurrent upper respiratory tract infections Obstructive sleep apnea Cerebellar atrophy Broad femoral neck Foam cells Rhinorrhea Abnormality of peripheral nerve conduction Myelopathy Sagittal craniosynostosis Hypoplasia of teeth Abnormal aortic valve morphology Constrictive median neuropathy Broad face Endocardial fibroelastosis Seborrheic dermatitis Abnormal mitral valve morphology Abnormality of premolar morphology Pulmonary edema Flared iliac wings Abnormality of the clavicle Cor pulmonale Conical tooth Angina pectoris Hypoplastic ilia Abnormal mandibular ramus morphology Communicating hydrocephalus Delayed ossification of the hand bones Large earlobe Beaking of vertebral bodies Tracheal stenosis Abnormality of the respiratory system Diastasis recti Gingivitis Ulcerative colitis Bifid distal phalanx of toe Neoplasm of the endocrine system Loss of speech Laryngeal stenosis Aplasia/Hypoplasia of the ulna Long clavicles Fibular aplasia Intestinal pseudo-obstruction Coronal cleft vertebrae Lethal skeletal dysplasia Fused cervical vertebrae 11 pairs of ribs Short femur Radial bowing Bell-shaped thorax Short humerus Thoracic platyspondyly Atonic seizures Progressive spasticity Tibial bowing Spondyloepiphyseal dysplasia Flat occiput Clubbing Oral-pharyngeal dysphagia Elbow dislocation Short metatarsal Drooling Abnormality of the outer ear Joint dislocation Multiple joint dislocation Club-shaped proximal femur Meningitis Cough Nephrotic syndrome Optic disc pallor Eczema Dehydration Aciduria Gastrointestinal hemorrhage Migraine Sepsis Retinal dystrophy Lymphadenopathy Vertigo Infertility Skin rash Multinucleated giant chondrocytes in epiphyseal cartilage Erythema Postnatal growth retardation Arthritis Myalgia Arthralgia Hyperhidrosis Rod-cone dystrophy Renal insufficiency Blindness Fatigue Fever Distal tapering femur Absence seizures Aspiration Conjunctivitis Intellectual disability, mild Hypoplastic nipples Thoracic hypoplasia 2-3 toe syndactyly Cholelithiasis Hoarse voice Low posterior hairline Memory impairment Joint hypermobility Smooth philtrum Attention deficit hyperactivity disorder Developmental regression Abnormality of metabolism/homeostasis High palate Prolonged partial thromboplastin time Fulminant hepatic failure Thoracic kyphoscoliosis Thoracic kyphosis Hepatocellular carcinoma Premature graying of hair Lipodystrophy Triangular face Single transverse palmar crease Bulbous nose Hepatic failure Prominent nasal bridge Pes planus Episodic abdominal pain Periorbital fullness Sinusitis Polyhydramnios Rhizomelia Recurrent urinary tract infections Otitis media Short metacarpal Premature birth Talipes Narrow chest Generalized tonic-clonic seizures Autistic behavior Respiratory tract infection Anxiety Macrotia Autism Abnormality of the mitochondrion Weight loss Respiratory failure Hypospadias Recurrent infections Respiratory distress Talipes equinovarus Gait disturbance Hyperreflexia Expressive language delay Spinal deformities Long hallux Prolonged prothrombin time Vasculitis Purpura Abnormality of the neck Syndactyly Cleft upper lip Arachnodactyly Hypotrichosis Coloboma Sparse hair Facial palsy Cleft lip Telecanthus Proteinuria EEG abnormality Polydactyly Microphthalmia Dysarthria Iris coloboma Cervical agenesis Right atrial isomerism Right ventricular outlet obstruction Duplication of the distal phalanx of hand Absent uvula Hypoplastic sacrum Thoracic hemivertebrae Aplasia/Hypoplasia involving the metacarpal bones Forearm undergrowth Broad toe Mesomelic short stature Triangular mouth Oral cleft Postaxial polydactyly Clitoral hypoplasia Melanocytic nevus Short 4th metacarpal Skin tags Fragile nails Narrow nose Sprengel anomaly Abnormality of the sternum Agenesis of permanent teeth Long fingers Basal cell carcinoma Milia Disproportionate tall stature Inflammation of the large intestine Nephritis Palmoplantar keratoderma Glomerulonephritis Neoplasm of the skin Spina bifida occulta Hypogonadotrophic hypogonadism Short ribs Spina bifida Bradycardia Hyperpigmentation of the skin Hemiparesis Cerebral calcification Hypotension Nevus Renal duplication Delayed eruption of permanent teeth Urticaria Increased IgA level Posteriorly rotated ears Ventricular septal defect Intrauterine growth retardation Anemia Pharyngitis Serositis Cervical lymphadenopathy Optic neuritis Neutrophilia Erysipelas Porokeratosis Neuritis Chills Hydronephrosis Recurrent aphthous stomatitis Peritonitis Acrocyanosis Poor coordination Uveitis Episodic fever Amyloidosis Elevated erythrocyte sedimentation rate Hypermelanotic macule Leukocytosis Intestinal obstruction Apathy Micropenis Abnormal cardiac septum morphology Normocytic anemia Mesomelia Short middle phalanx of the 5th finger Vaginal atresia Rib fusion Bifid tongue Hypoplastic labia majora Missing ribs Thoracolumbar scoliosis Double outlet right ventricle Nevus flammeus Increased number of teeth Long palpebral fissure External genital hypoplasia Delayed cranial suture closure Pulmonic stenosis Radial deviation of finger Wide anterior fontanel Dental crowding Broad thumb Ambiguous genitalia Nail dysplasia Dental malocclusion Hypodontia Small hand Short palm Flat face Confusion Postnatal macrocephaly



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Neonatal hypotonia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more