Frontal bossing, and Facial asymmetry

Diseases related with Frontal bossing and Facial asymmetry

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

Top matches:

Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.

ISOLATED PLAGIOCEPHALY Is also known as non-syndromic unicoronal synostosis|synostotic plagiocephaly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Strabismus
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED PLAGIOCEPHALY

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

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

Other less relevant matches:

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Spasticity
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL LAMBDOID SYNOSTOSIS

Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).For a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}.

HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2

Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. Additional variable skeletal abnormalities may also be present (summary by Nesbitt et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LAMB-SHAFFER SYNDROME; LAMSHF

Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT Is also known as hies, autosomal dominant|hyper-ige syndrome, autosomal dominant|job syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • High palate
  • Wide nasal bridge


SOURCES: OMIM MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

High match APERT SYNDROME

Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoplasia, and finger and toe anomalies and/or syndactyly.

APERT SYNDROME Is also known as acrocephalosyndactyly type 1|acrocephalosyndactyly, type i|acs i|acs1

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about APERT SYNDROME

Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

FRAGILE X SYNDROME Is also known as marker x syndrome|fraxa syndrome|martin-bell syndrome|mental retardation, x-linked, associated with marxq28|fragile x mental retardation syndrome|frax syndrome|fxs|x-linked mental retardation and macroorchidism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRAGILE X SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Facial asymmetry

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Midface retrusion Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Optic atrophy Hydrocephalus Ventriculomegaly Depressed nasal bridge Seizures Generalized hypotonia Mandibular prognathia Joint hypermobility Abnormality of the skeletal system Posteriorly rotated ears High forehead Proptosis Muscular hypotonia Scoliosis Hearing impairment Downslanted palpebral fissures Delayed speech and language development Abnormal facial shape

Rare Symptoms - Less than 30% cases

Anxiety Bulbous nose Abnormality of cardiovascular system morphology Atrial septal defect Deeply set eye Wide mouth Toe syndactyly Narrow palate Arnold-Chiari malformation Low-set ears Optic nerve hypoplasia Sensorineural hearing impairment Pes planus Constipation Prominent forehead Heterotopia Retrognathia Protruding ear Craniosynostosis Wide nasal bridge Relative macrocephaly Periventricular gray matter heterotopia Microretrognathia Finger syndactyly Otitis media Plagiocephaly Motor delay Sinusitis Immunodeficiency Overgrowth Coarse facial features Absent speech High palate Increased intracranial pressure Autism Autistic behavior Chronic otitis media Epicanthus Anal canal squamous carcinoma Recurrent Staphylococcus aureus infections Recurrent candida infections Lymphoma Opportunistic infection Lung abscess Recurrent sinusitis Squamous cell carcinoma of the vulva Impaired neutrophil chemotaxis Cleft palate Severe viral infections Hypertension Respiratory insufficiency Asthma Agenesis of corpus callosum Conductive hearing impairment Feeding difficulties in infancy Broad forehead Micromelia Recurrent fractures Visual impairment Eczema Prominent nose Increased IgE level Squamous cell carcinoma Atopic dermatitis Urticaria Recurrent skin infections Eosinophilia Recurrent bronchitis Chronic mucocutaneous candidiasis Recurrent bacterial infections Hemihypertrophy Verrucae Recurrent sinopulmonary infections Hemivertebrae Red hair Onychomycosis Decrease in T cell count Persistence of primary teeth B lymphocytopenia Fractures of the long bones Recurrent fungal infections Skin ulcer T-cell lymphoma Inflammatory abnormality of the skin Eczematoid dermatitis Recurrent bacterial skin infections Thick lower lip vermilion Bronchitis Flat face Cognitive impairment Delayed eruption of teeth Macroorchidism Thick vermilion border Postural instability Round face Mitral valve prolapse Hyperpigmentation of the skin Narrow face Hyperkinesis Premature ovarian insufficiency Self-injurious behavior Large hands Abnormality of neuronal migration Polyphagia Broad palm Poor eye contact Large forehead Neurological speech impairment Enuresis Hyperextensibility of the finger joints Ascending tubular aorta aneurysm Mood swings Irregular dentition Shyness Abnormal head movements Oppositional defiant disorder Encopresis Finger joint hypermobility Macroorchidism, postpubertal Increased size of the mandible Folate-dependent fragile site at Xq28 Congenital macroorchidism Long face Attention deficit hyperactivity disorder Hypoplasia of the maxilla Morphological abnormality of the semicircular canal Bifid uvula Convex nasal ridge Choanal atresia Broad thumb Large fontanelles Vertebral segmentation defect Absent septum pellucidum Ovarian neoplasm Aplasia/Hypoplasia of the thumb Esophageal atresia Corneal erosion Ectopic anus Cloverleaf skull Brachyturricephaly Cervical C5/C6 vertebrae fusion Intellectual disability, moderate Hyperactivity Joint laxity Aggressive behavior Neonatal hypotonia Gastroesophageal reflux Macrotia Cerebral cortical atrophy Pectus excavatum Acrobrachycephaly Depressivity Obesity Dilatation Intellectual disability, severe Feeding difficulties Pruritus Wide nose Dental crowding Cough Blepharophimosis Nevus flammeus Arteriovenous malformation Cerebral ischemia Visceral angiomatosis Abnormality of nervous system morphology Asymmetric growth Spasticity Anteverted nares Hypertonia Short nose Malar flattening Telecanthus Downturned corners of mouth Telangiectasia of the skin Small hand Flat occiput External ear malformation Arnold-Chiari type I malformation Anterior plagiocephaly Stomatocytosis Dimple chin Lambdoidal craniosynostosis Craniofacial dysostosis Ectopic posterior pituitary Prominent scalp veins Round ear Diminished ability to concentrate Foot polydactyly Hypermelanotic macule Posterior plagiocephaly Nail dysplasia Abnormality of eye movement Visual field defect Cryptorchidism Microtia Abnormality of the foot Febrile seizures Tall stature Gait disturbance Syndactyly Gait ataxia Facial palsy Dental malocclusion Small nail Cutis marmorata Tetraparesis Hyperostosis Short finger Cutaneous finger syndactyly Sclerotic vertebral endplates Neoplasm Failure to thrive Arrhythmia Joint hyperflexibility Polymicrogyria Full cheeks Hand polydactyly Aplasia/Hypoplasia of the cerebellum Pansynostosis Hypoplasia of the corpus callosum Skin rash Vertebral clefting Mitral regurgitation Clumsiness Stereotypy Exotropia Pointed chin Overlapping toe Disproportionate tall stature Long fingers Maternal diabetes Small face Long hallux Hyperplasia of the maxilla Thoracic kyphoscoliosis Lumbar hyperlordosis Expressive language delay Ureteral stenosis Mild myopia Hypoplastic helices Laryngotracheomalacia Severe expressive language delay Dysphagia Abnormality of the dentition Recurrent infections Pneumonia Osteoporosis Osteopenia Erythema Open mouth Renal agenesis Hernia Wide anterior fontanel Cerebellar hypoplasia Polyhydramnios Cleft lip Coloboma Abnormal cardiac septum morphology Hepatic failure Pulmonary hypoplasia Iris coloboma Intestinal malrotation Dandy-Walker malformation Microdontia Congenital diaphragmatic hernia Cholestasis Lissencephaly Pectus carinatum Cortical gyral simplification Communicating hydrocephalus Abnormal cortical gyration Colpocephaly Macular hypoplasia Severe hydrocephalus Ptosis Myopia Behavioral abnormality Clinodactyly Kyphoscoliosis Thin upper lip vermilion Hyperlordosis Severe temper tantrums


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