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 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;sialuria, french type

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM GARD MONDO ORPHANET DOID

More info about SIALURIA

High match BASAL CELL NEVUS SYNDROME; BCNS

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

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: MONDO DOID NCIT OMIM GARD

More info about BASAL CELL NEVUS SYNDROME; BCNS

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;covesdem syndrome; costovertebral segmentation defect-mesomelia syndrome; rrs

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH ORPHANET MONDO OMIM DOID UMLS

More info about ROBINOW SYNDROME, AUTOSOMAL RECESSIVE; RRS

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Other less relevant matches:

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
  • Generalized hypotonia
  • Failure to thrive
  • Delayed speech and language development
  • Macrocephaly


SOURCES: OMIM UMLS GARD MONDO

More info about FG SYNDROME 2; FGS2

Medium match SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS; SSOAOD

Patients with SSOAD exhibit a broad phenotypic spectrum involving short stature associated with advanced bone maturation and early-onset osteoarthritis (OA), as well as mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disc disease and osteochondritis dissecans, which is characterized by separation of articular cartilage and subchondral bone from the articular surface. Phenotypes are highly variable even among patients within the same family, and there are no apparent genotype-phenotype correlations (Dateki et al., 2017).The term 'dissecans' comes from 'dis' meaning 'from' and 'secare' meaning 'cut off,' and is not to be confused with 'desiccans' derived from 'desiccare' meaning to 'dry up.' Dissecans refers to the appearance of part of the bone having been cut away.

SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS; SSOAOD Is also known as osteochondritis dissecans, short stature, and early-onset osteoarthritis;od;osteochondritis dissecans and short stature

Related symptoms:

  • Autosomal dominant inheritance
  • Short stature
  • Abnormal facial shape
  • Milia
  • Depressed nasal bridge


SOURCES: MESH MONDO NCIT ICD10 ORPHANET COHD DOID GARD ICD9 OMIM

More info about SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS; SSOAOD

Medium match VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B

An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets.

VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B Is also known as vitamin d-dependent rickets, type 1b, 25-hydroxyvitamin d3 deficiency, selective, pseudovitamin d3 deficiency rickets due to 25-hydroxylase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscular hypotonia


SOURCES: NCIT UMLS OMIM MONDO MESH

More info about VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B; VDDR1B

Medium match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013).For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Abnormal facial shape
  • Muscle weakness
  • Myopathy
  • High palate


SOURCES: MONDO UMLS OMIM

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2

Medium match EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2

Multiple epiphyseal dysplasia is a clinically and genetically heterogeneous skeletal disorder characterized by joint pain and stiffness, mild short stature, and degenerative joint disease. Onset of the disorder is usually in childhood (summary by Jackson et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of EDM, see EDM1 (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Short stature
  • Pica
  • Muscle weakness
  • Myopathy


SOURCES: UMLS MONDO GARD MESH OMIM

More info about EPIPHYSEAL DYSPLASIA, MULTIPLE, 2; EDM2

Medium match HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS

Hypocalcemic vitamin D-resistant rickets (HVDRR) is a hereditary disorder of vitamin D action characterized by hypocalcemia, severe rickets and in many cases alopecia.

HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS Is also known as hvdrr; hereditary vitamin d-resistant rickets; vddr ii; vdrr ii; vitamin d-dependent rickets type ii; vitamin d-resistant rickets type ii

Related symptoms:

  • Short stature
  • Scoliosis
  • Frontal bossing
  • Gait disturbance
  • Abnormality of the dentition


SOURCES: ORPHANET SCTID

More info about HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS

Medium match ACHONDROGENESIS TYPE 2

Achondrogenesis type 2 (ACG2), a form of achondrogenesis (see this term), is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders (see this term), characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 2 Is also known as achondrogenesis, langer-saldino type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Short neck
  • Frontal bossing
  • Anteverted nares


SOURCES: ORPHANET

More info about ACHONDROGENESIS TYPE 2

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

Symptoms // Phenotype % cases
Pain Common - Between 50% and 80% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Autosomal dominant inheritance Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Oxycephaly Long philtrum Micrognathia Intellectual disability Downslanted palpebral fissures Autosomal recessive inheritance Depressed nasal bridge Hernia Inguinal hernia Brachydactyly Muscle weakness Wide nasal bridge Generalized hypotonia Hypertelorism Abnormal facial shape

Rare Symptoms - Less than 30% cases


Chondritis Hemivertebrae Short neck Myopathy Growth delay Gait disturbance Vertebral fusion Retrognathia Oral cleft Proptosis Short nose Heterogeneous Pectus excavatum Abnormality of the skeletal system Tics Genu varum Anteverted nares Midface retrusion Abnormality of the dentition Abnormality of the hip bone Recurrent fractures Mild short stature Waddling gait Protruding ear Failure to thrive Bone pain Disproportionate short-limb short stature Dental crowding Osteochondritis Dissecans Milia Hypodontia Flat face Umbilical hernia Severe short stature Alopecia Hypophosphatemia Delayed skeletal maturation Blue sclerae Short palm Hepatosplenomegaly Global developmental delay Thin upper lip vermilion Joint hypermobility Macroglossia Coarse facial features Thoracic hypoplasia Prominent forehead Splenomegaly Epicanthus Low-set ears High palate Strabismus Micromelia Aplasia/Hypoplasia of the lungs Recurrent pneumonia X-linked inheritance Hyperactivity Neonatal hypotonia Constipation Delayed speech and language development Large forehead Elevated hepatic transaminase Cervical agenesis Femoral hernia Right atrial isomerism Right ventricular outlet obstruction Bifid distal phalanx of toe Hypoplastic female external genitalia Anteriorly placed anus Underdeveloped superior crus of antihelix Duplication of the distal phalanx of hand Broad hallux Exostoses Disproportionate short stature Cystic hygroma Proportionate short stature Back pain Growth abnormality Thickened nuchal skin fold Arthritis Accelerated skeletal maturation Osteoarthritis Short thumb Lumbar hyperlordosis Hyperlordosis Skeletal dysplasia Absent uvula Short forearm Low back pain Ectopic anus Vaginal atresia Double outlet right ventricle Rib fusion Nevus flammeus Broad hallux phalanx Thoracolumbar scoliosis Hypoplastic labia majora Bifid tongue Missing ribs Increased number of teeth Synostosis of carpal bones Mesomelia Long palpebral fissure External genital hypoplasia Lethal skeletal dysplasia Short middle phalanx of the 5th finger Abnormal aortic morphology Thoracic hemivertebrae Renal duplication Hypoplastic sacrum Aplasia/Hypoplasia involving the metacarpal bones Alveolar ridge overgrowth Abnormal pulmonary valve morphology Mesomelic short stature Exaggerated cupid's bow Broad toe Ankyloglossia Forearm undergrowth Abnormal tricuspid valve morphology Triangular mouth Delayed eruption of permanent teeth Clitoral hypoplasia Normocytic anemia Fingernail dysplasia Abnormality of metabolism/homeostasis Intellectual disability, mild Polyhydramnios Narrow chest Knee osteoarthritis Flattened epiphysis Multiple epiphyseal dysplasia Hypoplasia of the capital femoral epiphysis Small epiphyses Irregular epiphyses Childhood onset Dolichocephaly Epiphyseal dysplasia Proximal muscle weakness Fatigue Cognitive impairment Pica Fragile skin Bilateral talipes equinovarus Ankle pain Genu valgum Adducted thumb Osteomalacia Abnormality of cardiovascular system morphology Abnormal adipose tissue morphology Abnormal bone structure Rough bone trabeculation Premature loss of primary teeth Bone cyst Hyperparathyroidism Abnormality of the skin Abnormality of the thorax Hypocalcemia Joint dislocation Osteolysis Nephrolithiasis Abnormal form of the vertebral bodies Abnormality of the metaphysis Delayed gross motor development Patent foramen ovale Muscular hypotonia Tibial bowing Thin bony cortex Delayed epiphyseal ossification Bowing of the legs Abdominal distention Femoral bowing Rickets Metaphyseal irregularity Fibular bowing Flat occiput Elevated alkaline phosphatase Delayed cranial suture closure Hepatomegaly Difficulty walking Infantile onset Hydrops fetalis Widely patent fontanelles and sutures Difficulty standing Scarring Cerebral atrophy Generalized muscle weakness Arachnodactyly Talipes Myalgia Telecanthus Brachycephaly Talipes equinovarus Enlargement of the wrists Postaxial hand polydactyly Bulging of the costochondral junction Deformed rib cage Bulging epiphyses Enlargement of the ankles Sparse bone trabeculae Enlargement of the costochondral junction Cleft palate Vertebral segmentation defect Open bite Long fingers Down-sloping shoulders Thoracic scoliosis Sprengel anomaly Ovarian cyst Abnormality of the sternum Disproportionate tall stature Inflammation of the large intestine Neoplasm of the endocrine system Basal cell carcinoma Hyperkinesis Colitis Hamartoma Fibroma Relative macrocephaly Neoplasm of the skin Short 4th metacarpal Astrocytoma Dysostosis multiplex Ovarian carcinoma Cardiac rhabdomyoma Orbital cyst Palmar pits Short distal phalanx of the thumb Multiple impacted teeth Vertebral wedging Parietal bossing Ectopic calcification Brain neoplasm Hamartomatous polyposis Cervical ribs Supernumerary ribs Medulloblastoma Ulcerative colitis Broad face Skin tags Spina bifida Spina bifida occulta Severe hydrocephalus Coma Prolonged partial thromboplastin time Mandibular prognathia Glaucoma Periorbital fullness Prolonged prothrombin time Abnormality of the mitochondrion Microphthalmia Long hallux Kyphoscoliosis Hydrocephalus Edema Spinal deformities Expressive language delay Nevus Neoplasm Motor delay Polydactyly EEG abnormality Short ribs Postaxial polydactyly Bradycardia Hemiparesis Exotropia Hyperpigmentation of the skin Hypotension Upper airway obstruction Abnormality of the ribs Cerebral calcification Facial palsy Acrania Iris coloboma Papule Cleft upper lip Cleft lip Coloboma Carcinoma Histiocytoma Plantar pits Chronic otitis media Wide nose Tetralogy of Fallot Hypoplasia of penis Dental malocclusion Nail dysplasia Small hand Synophrys Death in infancy Downturned corners of mouth Attention deficit hyperactivity disorder Short distal phalanx of finger Seizures Smooth philtrum Pulmonic stenosis Abnormal cardiac septum morphology Toe syndactyly Pectus carinatum Ambiguous genitalia Confusion Short philtrum Multicystic kidney dysplasia Cataract Tented upper lip vermilion Radial deviation of finger Elbow dislocation Abnormal palate morphology Sacral dimple Sandal gap Bilateral single transverse palmar creases Limb undergrowth Abnormal vertebral morphology Long eyelashes Wide anterior fontanel Gingival overgrowth Developmental regression Split hand Broad thumb Finger syndactyly Low-set, posteriorly rotated ears Calcification of falx cerebri Protuberant abdomen Intrauterine growth retardation Anemia Cryptorchidism Ptosis Hypoplastic nipples Hearing impairment Episodic abdominal pain Hamartomatous stomach polyps Sleep apnea Irregular ossification of hand bones Mesenteric cyst Bridged sella turcica Cardiac fibroma Odontogenic keratocysts of the jaw Ovarian fibroma Bifid ribs 2-3 toe syndactyly Ventricular septal defect Wide mouth Recurrent respiratory infections Camptodactyly of finger Hydronephrosis High, narrow palate Clinodactyly Micropenis Posteriorly rotated ears Upslanted palpebral fissure Low posterior hairline Atrial septal defect Memory impairment Clinodactyly of the 5th finger Generalized hirsutism Malar flattening Hoarse voice Kyphosis Cholelithiasis Abnormal enchondral ossification



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