Frontal bossing, and Overgrowth

Diseases related with Frontal bossing and Overgrowth

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

Top matches:

Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Macrocephaly
  • Gait disturbance
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SCLEROSTEOSIS 2; SOST2

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

Other less relevant matches:

Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

High match SCLEROSTEOSIS

Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.

SCLEROSTEOSIS Is also known as cortical hyperostosis-syndactyly syndrome|sost|cortical hyperostosis with syndactyly

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCLEROSTEOSIS

Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2

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

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

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

Symptoms // Phenotype % cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Prominent forehead Generalized hypotonia Proptosis Ventriculomegaly Hearing impairment Low-set ears Dental malocclusion Midface retrusion Hydrocephalus Hernia Short nose Narrow mouth High forehead Wide nasal bridge Tall stature Cognitive impairment Sensorineural hearing impairment Abnormality of the dentition Growth delay Failure to thrive High palate Short stature Hyperactivity Myopia Hyperostosis Abnormality of the skeletal system Syndactyly Seizures Increased intracranial pressure Mandibular prognathia

Rare Symptoms - Less than 30% cases

Narrow nose Thin vermilion border Triangular face Attention deficit hyperactivity disorder Disproportionate tall stature Upslanted palpebral fissure Sparse eyebrow Metopic synostosis Micropenis Delayed speech and language development Visual impairment Cataract Clinodactyly Edema Skin rash Sparse scalp hair Dental crowding Thin upper lip vermilion Depressed nasal bridge Malar flattening Increased bone mineral density Micrognathia Cryptorchidism Brachydactyly Anteverted nares Long philtrum Skeletal dysplasia Facial palsy Gait ataxia Deeply set eye Cerebellar atrophy Hypoplasia of the corpus callosum Sclerotic vertebral endplates Inguinal hernia Nail dysplasia Strabismus Congenital hip dislocation Diarrhea Motor delay Muscular hypotonia Absent speech Facial asymmetry Underdeveloped nasal alae Clinodactyly of the 5th finger Fine hair Hypoplasia of the maxilla Microcornea Short palpebral fissure Long nose Large fontanelles Abnormality of dental enamel Sparse eyelashes Abnormality of dental morphology Short foot Basal ganglia calcification Spinal cord compression Mild global developmental delay Large earlobe Hypoplasia of teeth Cutaneous syndactyly of toes Cranial hyperostosis Broad long bones Delayed eruption of teeth Telecanthus Small hand Juvenile rheumatoid arthritis Meningitis Vasculitis Joint dislocation Purpura Reduced bone mineral density Urticaria Leukocytosis Elevated erythrocyte sedimentation rate Progressive sensorineural hearing impairment Abnormal joint morphology Arthropathy Amyloidosis Uveitis Abnormal thrombocyte morphology Small nail 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 Tetraparesis Epicanthus Microphthalmia Delayed skeletal maturation Brachycephaly Macrodontia of permanent maxillary central incisor Toe syndactyly Persistent pupillary membrane Ataxia Fifth finger distal phalanx clinodactyly Renal hypoplasia Dilatation Agenesis of corpus callosum Polydactyly Jaundice Hydronephrosis Craniosynostosis Retinopathy Broad forehead Polymicrogyria Vesicoureteral reflux Urinary incontinence Hip dysplasia Pigmentary retinopathy Short chin Hypertension Aplasia/Hypoplasia of the corpus callosum Abnormality of the urinary system Overfolded helix Obsessive-compulsive behavior Cutis marmorata Absent septum pellucidum Syringomyelia Arnold-Chiari type I malformation Arachnoid cyst Broad face Ureterocele Intraventricular hemorrhage Craniofacial asymmetry Hypertonia Severe expressive language delay 4-5 finger syndactyly Prominent nasal bridge 2-4 toe cutaneous syndactyly Scoliosis Migraine Kyphosis Cerebellar hypoplasia Posteriorly rotated ears Cerebral cortical atrophy Macrotia Kyphoscoliosis Pes planus Difficulty walking Joint laxity Hyperlordosis Arachnodactyly Thick corpus callosum Long face Abnormal cerebellum morphology High myopia Lumbar hyperlordosis Large hands Long fingers Megalencephaly Long foot Communicating hydrocephalus Slender build Gait disturbance Expressive language delay Long neck Premature birth EEG abnormality Lymphadenopathy Poikiloderma Eczema Cutaneous photosensitivity Tented upper lip vermilion Telangiectasia Melanoma Erythroderma Squamous cell carcinoma Basal cell carcinoma Striae distensae Severe vision loss Alopecia of scalp Osteosarcoma Concave nasal ridge Hypopigmentation of the skin Acantholysis Lamellar cataract Acrokeratosis Nystagmus Torticollis Ptosis Chronic diarrhea Optic atrophy Open mouth Headache Visual loss Narrow forehead Abnormal blistering of the skin Abnormality of skin pigmentation Finger syndactyly Increased head circumference Autism Behavioral abnormality Wide nose Hypoplasia of penis Short neck Pointed chin Lissencephaly Large for gestational age Neoplasm Pain Microcephaly Feeding difficulties Congenital muscular torticollis Leukemia Vomiting Facial hypotonia Alopecia Osteoporosis Hyperhidrosis Hypogonadism Hyperkeratosis Osteopenia Carcinoma Postnatal growth retardation Erythema Sparse hair Pyloric stenosis Paralysis Esotropia Nausea and vomiting Triangular mouth Limb undergrowth Broad thumb Short finger Short phalanx of finger Gingival overgrowth Oligodontia Chronic otitis media Mesomelia Thickened calvaria Depressed nasal tip Generalized osteosclerosis Narrow naris Mesomelic short stature Short distal phalanx of finger Narrow nasal tip Otitis media with effusion Anemia Hepatomegaly Fever Fatigue Blindness Splenomegaly Arthralgia Hepatosplenomegaly Myalgia Arthritis Papule Otitis media Wide mouth Poor speech Esodeviation Cutaneous syndactyly Anosmia Abnormality of pelvic girdle bone morphology Constriction of peripheral visual field Abnormal cranial nerve morphology Broad ribs Abnormal cortical bone morphology Abnormality of the nose Craniofacial hyperostosis Fingernail dysplasia Diaphyseal thickening Deviation of finger Broad clavicles Camptodactyly Trigeminal neuralgia 2-3 finger syndactyly Sclerotic scapulae Curved distal phalanges of the hand Facial palsy secondary to cranial hyperostosis Cortically dense long tubular bones Hip dislocation Hypoglycemia Severe short stature Umbilical hernia Cutaneous finger syndactyly Conductive hearing impairment Cleft lip Partial absence of the septum pellucidum


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