Frontal bossing, and Brachycephaly

Diseases related with Frontal bossing and Brachycephaly

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


Top matches:

High match CRANIOSYNOSTOSIS, BOSTON TYPE


Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.

CRANIOSYNOSTOSIS, BOSTON TYPE Is also known as csb|warman-mulliken-hayward syndrome|craniosynostosis, warman type|craniosynostosis, boston-type

Related symptoms:

  • Seizures
  • Brachydactyly
  • Myopia
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOSYNOSTOSIS, BOSTON TYPE

High match AICA-RIBOSIDURIA


AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.

AICA-RIBOSIDURIA Is also known as aica-ribosuria due to atic deficiency|5-amino-4-imidazole carboxamide ribosiduria|atic deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AICA-RIBOSIDURIA

High match FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME


Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.

FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME Is also known as alx4-related fndag|frontonasal dysplasia type 2|frontonasal dysplasia with alopecia and genital abnomality|craniofrontonasal dysplasia with alopecia and hypogonadism

Related symptoms:

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME

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Other less relevant matches:

High match ANTLEY-BIXLER SYNDROME


Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: ORPHANET MENDELIAN

More info about ANTLEY-BIXLER SYNDROME

High match GORLIN SYNDROME


Gorlin syndrome (GS) is a genodermatosis characterized by multiple early-onset basal cell carcinoma (BCC), odontogenic keratocysts and skeletal abnormalities.

GORLIN SYNDROME Is also known as nbccs|basal cell nevus syndrome|nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about GORLIN SYNDROME

High match 5P13 MICRODUPLICATION SYNDROME


5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).

5P13 MICRODUPLICATION SYNDROME Is also known as dup(5)(p13)|trisomy 5p13

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 5P13 MICRODUPLICATION SYNDROME

High 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:

  • Global developmental delay
  • Hypertelorism
  • Muscle weakness
  • Abnormal facial shape
  • Pain


SOURCES: OMIM MENDELIAN

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

High match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B


Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

High match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE


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

High match D-2-HYDROXYGLUTARIC ACIDURIA


D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.

D-2-HYDROXYGLUTARIC ACIDURIA Is also known as d-2-hga|d-2-hydroxyglutaric acidemia|d2hga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about D-2-HYDROXYGLUTARIC ACIDURIA

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

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Anteverted nares Abnormal facial shape Micrognathia Turricephaly Epicanthus Arachnodactyly Strabismus Telecanthus Wide nasal bridge Mandibular prognathia Prominent forehead Scoliosis Narrow mouth Long philtrum Muscular hypotonia Agenesis of corpus callosum Generalized hypotonia Protruding ear Craniosynostosis Hypotelorism

Rare Symptoms - Less than 30% cases


Broad forehead Cataract Large fontanelles Underdeveloped nasal alae Fine hair Triangular face Proptosis Hypoplasia of the maxilla Talipes Deeply set eye Malar flattening Recurrent fractures Ventriculomegaly Bulbous nose Failure to thrive Hydrocephalus Microcephaly Dental crowding Blue sclerae Joint hypermobility High palate Midface retrusion Macrocephaly Cerebral atrophy Brachydactyly Short palpebral fissure Upslanted palpebral fissure Muscle weakness Myopia Microphthalmia Intrauterine growth retardation Narrow forehead Coronal craniosynostosis Abnormality of the dentition Blindness Cryptorchidism Dolichocephaly Overgrowth Sparse scalp hair Alopecia Dental malocclusion Microcornea Short foot Small hand Thin vermilion border Delayed eruption of teeth Sparse eyelashes Abnormality of dental enamel Delayed skeletal maturation Abnormality of dental morphology Hyperostosis Long nose Basal ganglia calcification Narrow nose Spinal cord compression Mild global developmental delay Large earlobe Hypoplasia of teeth Toe syndactyly Narrow nasal ridge Clinodactyly Bowing of the long bones Wormian bones Osteoporosis Gastroesophageal reflux Osteopenia Hypermetropia Joint laxity Postnatal growth retardation Hip dislocation Headache Congenital hip dislocation Syndactyly Cutis laxa Growth abnormality Redundant skin Premature skin wrinkling Prominent superficial veins Colpocephaly Abnormal glycosylation Short stature Delayed speech and language development Cutaneous syndactyly of toes Persistent pupillary membrane Cranial hyperostosis Delayed CNS myelination Involuntary movements Cerebral visual impairment Absence seizures Severe muscular hypotonia Aortic regurgitation Shock Focal impaired awareness seizure Stridor Increased CSF protein Dilation of lateral ventricles Periventricular leukomalacia Epileptic encephalopathy Episodic vomiting Generalized tonic seizures Inspiratory stridor Narrow naris Anteverted ears Infantile encephalopathy Glutaric aciduria Cardiogenic shock Subependymal cysts D-2-hydroxyglutaric aciduria Hypsarrhythmia Focal-onset seizure Broad long bones Vomiting Trigonocephaly Macrodontia of permanent maxillary central incisor Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly 2-4 toe cutaneous syndactyly Feeding difficulties Visual impairment Respiratory insufficiency Respiratory distress Cardiomyopathy Behavioral abnormality Aciduria Encephalopathy Myoclonus Hyperactivity Cerebral cortical atrophy Skeletal dysplasia Coarse facial features Apnea Irritability Lethargy Flat face Broad nasal tip Abnormality of the skeletal system Facial hypotonia Growth delay Glaucoma Hypoplasia of the zygomatic bone Abnormal renal morphology Narrow pelvis bone Elbow ankylosis Clitoral hypertrophy Neoplasm Intellectual disability, profound Abnormality of the skin Prominent nasal bridge Wide mouth Thin upper lip vermilion Femoral bowing Carious teeth Iris coloboma Cerebral calcification Hypogonadotrophic hypogonadism Hemivertebrae Melanocytic nevus Vertebral fusion Abnormality of the neck Abnormality of the sense of smell Vertebral wedging Underdeveloped supraorbital ridges Delayed cranial suture closure Plantar pits Cleft palate Intellectual disability, moderate Intellectual disability, mild Oligohydramnios Encephalocele Scrotal hypoplasia Calvarial skull defect Conical tooth Broad philtrum Agenesis of cerebellar vermis Bifid nose Short nose Choanal atresia Abnormality of cardiovascular system morphology Depressed nasal bridge Low-set, posteriorly rotated ears Joint stiffness Camptodactyly of finger Narrow chest Nystagmus Fused labia minora Congenital blindness Abnormality of the ribs Palmar pits Abnormality of metabolism/homeostasis Triphalangeal thumb Increased number of teeth Hernia Inguinal hernia Arthralgia Myalgia Camptodactyly Cleft soft palate Scarring Bruising susceptibility Generalized muscle weakness Mitral valve prolapse Mitral regurgitation Anterior plagiocephaly Visual field defect Joint dislocation Delayed gross motor development Adducted thumb Hyperextensible skin Patent foramen ovale Bilateral talipes equinovarus Fragile skin Hypogonadism Hypoplasia of the musculature Cloverleaf skull Myopathy Intellectual disability, severe Low posterior hairline Atrial septal defect Optic atrophy Sparse hair Blepharophimosis Short philtrum Unicoronal synostosis Small for gestational age Astigmatism Bicoronal synostosis Sleep disturbance Metopic synostosis Talipes equinovarus Stereotypy Exotropia Obsessive-compulsive behavior Large hands Long fingers Overweight Long foot Brachyturricephaly Pain Motor delay Multifocal cerebral white matter abnormalities



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