Frontal bossing, and Arachnodactyly

Diseases related with Frontal bossing and Arachnodactyly

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


Top matches:

High match MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14


Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

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 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

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Other less relevant matches:

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 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 ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2


The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS, including midface hypoplasia, choanal stenosis or atresia, and multiple joint contractures. Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010).

ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2 Is also known as multisynostotic osteodysgenesis with long bone fractures|osteodysgenesis, multisynostotic, with fractures|trapezoidocephaly-synostosis syndrome

Related symptoms:

  • Intellectual disability
  • Flexion contracture
  • Depressed nasal bridge
  • Frontal bossing
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2

High match ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1


The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS; other features include midface hypoplasia, choanal stenosis or atresia, multiple joint contractures, visceral anomalies (particularly of the genitourinary system), and impaired steroidogenesis (present only in patients with POR mutations). Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010).

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1

High match MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR


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

High match 17Q23.1Q23.2 MICRODELETION SYNDROME


17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.

17Q23.1Q23.2 MICRODELETION SYNDROME Is also known as 17q23.1-q23.2 microdeletion syndrome|del(17)(q23.1q23.2)|monosomy 17q23.1q23.2|monosomy 17q23.1-q23.2

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q23.1Q23.2 MICRODELETION SYNDROME

High match X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS


The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

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

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Brachycephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


High palate Proptosis Craniosynostosis Macrocephaly Malar flattening Strabismus Abnormal facial shape Seizures Midface retrusion Slender finger Downslanted palpebral fissures Protruding ear Long philtrum Atrial septal defect Depressed nasal bridge Femoral bowing Flexion contracture Narrow mouth Epicanthus Camptodactyly Hydrocephalus Generalized hypotonia Narrow chest Intellectual disability, mild Small for gestational age Prominent forehead Mandibular prognathia Prominent nasal bridge Long face Long fingers Low-set ears Muscular hypotonia Long foot Choanal atresia

Rare Symptoms - Less than 30% cases


Radioulnar synostosis Growth delay Ulnar bowing Turricephaly Humeroradial synostosis Abnormal renal morphology Bulbous nose Narrow pelvis bone Intrauterine growth retardation Behavioral abnormality Dental crowding Abnormality of the genitourinary system Rocker bottom foot Talipes equinovarus Abnormality of the pinna Obsessive-compulsive behavior Agenesis of corpus callosum Upslanted palpebral fissure Micrognathia Short philtrum Large hands Multiple joint contractures Choanal stenosis Talipes Disproportionate tall stature Slender build High forehead Hemivertebrae Telecanthus Wide nasal bridge Brachydactyly Cryptorchidism Nasal speech Joint laxity Delayed speech and language development Narrow face Hypoplasia of the maxilla Cognitive impairment Pectus excavatum Kyphosis Pes planus Aggressive behavior Cleft palate Microcephaly Camptodactyly of finger Hyperlordosis Absent speech Cerebellar atrophy High myopia Ventriculomegaly Myopia Communicating hydrocephalus Megalencephaly Expressive language delay Lumbar hyperlordosis Clinodactyly of the 5th finger Tall stature Ataxia Patent ductus arteriosus Metopic synostosis Cerebellar hypoplasia Overgrowth Sparse eyebrow Thick corpus callosum Difficulty walking Abnormal cerebellum morphology Kyphoscoliosis Long neck Short stature Macrotia Severe expressive language delay Gait ataxia Cerebral cortical atrophy Failure to thrive Hypertension Hyperreflexia Posteriorly rotated ears Triangular face Hearing impairment Chronic otitis media Dyspnea Deep philtrum Autism Thin upper lip vermilion Attention deficit hyperactivity disorder Neurological speech impairment Joint hyperflexibility Psychosis Open mouth Broad thumb Anorexia Hallucinations Short chin Aplasia/Hypoplasia of the corpus callosum Schizophrenia Abnormality of the voice Dilatation Aortic aneurysm Emotional lability Long nose Narrow nasal bridge Aortic root aneurysm Macroorchidism Abnormality of the rib cage Impaired social interactions Ascending tubular aorta aneurysm Velopharyngeal insufficiency Low frustration tolerance Oppositional defiant disorder Cat cry Hyperactivity Abnormality of the dentition Gastroesophageal reflux Bicuspid aortic valve Postnatal growth retardation Abnormal cardiac septum morphology Retinopathy Highly arched eyebrow Limitation of joint mobility Esotropia Pulmonary arterial hypertension Long eyelashes Abnormality of epiphysis morphology Bilateral single transverse palmar creases Sandal gap Widely spaced teeth Sacral dimple Congenital contracture Ventricular septal defect Low maternal serum estriol Shawl scrotum Blepharitis Mild global developmental delay Bifid nose Patellar hypoplasia Moderate global developmental delay Long toe Shallow acetabular fossae Retinopathy of prematurity Coxa magna Chalazion Feeding difficulties Maternal virilization in pregnancy Coronal craniosynostosis Vesicovaginal fistula Myalgia Hypoplasia of the zygomatic bone Elbow ankylosis Muscle weakness Pain Motor delay Myopathy Cerebral atrophy Hernia Inguinal hernia Arthralgia Scarring Delayed cranial suture closure Joint hypermobility Bruising susceptibility Generalized muscle weakness Mitral valve prolapse Blue sclerae Mitral regurgitation Joint dislocation Delayed gross motor development Adducted thumb Hyperextensible skin Patent foramen ovale Underdeveloped supraorbital ridges Abnormality of the ribs Fragile skin Hypogonadotrophic hypogonadism Intellectual disability, severe Pectus carinatum Growth abnormality Abnormality of the sternum Abnormality of the musculature Neoplasm Cataract Glaucoma Carious teeth Iris coloboma Cerebral calcification Melanocytic nevus Recurrent fractures Vertebral fusion Abnormality of the neck Abnormality of the sense of smell Vertebral wedging Palmar pits Plantar pits Anteverted nares Short nose Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Joint stiffness Bilateral talipes equinovarus Facial hypotonia Abnormalities of placenta or umbilical cord Arnold-Chiari malformation Fused labia minora Abnormality of metabolism/homeostasis Hypospadias Micropenis Conductive hearing impairment Oligohydramnios Ambiguous genitalia Abnormality of the genital system Joint contracture of the hand Horseshoe kidney Scrotal hypoplasia Laryngomalacia Pear-shaped nose Polycystic ovaries Clitoral hypertrophy Bifid scrotum Tarsal synostosis Carpal synostosis Abnormality of abdomen morphology Abnormality of the endocrine system Labial hypoplasia Cloverleaf skull Chordee Bronchomalacia Bicoronal synostosis Narrow iliac wings Hypoplasia of the musculature Overweight Sparse hair Blepharophimosis Broad forehead Astigmatism Sleep disturbance Narrow forehead Hypotelorism Low posterior hairline Short palpebral fissure Stereotypy Exotropia Recurrent respiratory infections Lambdoidal craniosynostosis Respiratory failure Apnea Respiratory tract infection Progressive neurologic deterioration Wide anterior fontanel Malnutrition Esophageal atresia Stenosis of the external auditory canal Hypoplastic labia majora Upper airway obstruction Vaginal atresia Abnormally folded helix



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