Frontal bossing, and Astigmatism

Diseases related with Frontal bossing and Astigmatism

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


Top matches:

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 AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA


Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora.

AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA Is also known as axial smd|smd, axial

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA

High match SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME


SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME Is also known as sbidds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

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Other less relevant matches:

Medium match SANJAD-SAKATI SYNDROME


Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

Medium match 16Q24.3 MICRODELETION SYNDROME


16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.

16Q24.3 MICRODELETION SYNDROME Is also known as monosomy 16q24.3|del(16)(q24.3)

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 16Q24.3 MICRODELETION SYNDROME

Medium match 2Q23.1 MICRODELETION SYNDROME


The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

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

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

Medium match MULIBREY NANISM


MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Medium match ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME


Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Medium match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Medium match BRITTLE CORNEA SYNDROME 1; BCS1


Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017). Genetic Heterogeneity of Brittle Cornea SyndromeBrittle cornea syndrome-2 (BCS2 ) is caused by mutation in the PRDM5 gene (OMIM ) on chromosome 4q27.

BRITTLE CORNEA SYNDROME 1; BCS1 Is also known as ehlers-danlos syndrome, type vib, formerly|dysgenesis mesodermalis corneae et sclerae|corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility|eds6b, formerly|fragilitas oculi with joint hyperextensibility

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Epicanthus
  • Myopia
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about BRITTLE CORNEA SYNDROME 1; BCS1

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases


High palate Microcephaly Feeding difficulties Scoliosis Muscular hypotonia Long philtrum Ventriculomegaly Hypoplasia of the corpus callosum Intrauterine growth retardation Postnatal growth retardation Myopia Depressed nasal bridge Anteverted nares Failure to thrive Delayed speech and language development Broad forehead Hypertelorism Micrognathia Abnormal facial shape Low-set ears Epicanthus Macrocephaly Small for gestational age Triangular face Respiratory distress Kyphosis Delayed skeletal maturation Wide nasal bridge High forehead Severe short stature Visual impairment Short foot Ptosis Hip dysplasia Hearing impairment Nystagmus Motor delay Highly arched eyebrow

Rare Symptoms - Less than 30% cases


Talipes Esotropia Hypogonadism Prominent forehead Posteriorly rotated ears Gastroesophageal reflux Recurrent respiratory infections Microphthalmia Abnormality of the dentition Myopathy Feeding difficulties in infancy Hypermetropia Delayed myelination Thin upper lip vermilion Dental crowding Thin vermilion border Deeply set eye Retrognathia Malar flattening Short attention span Short neck Ascites Cardiomyopathy Edema Hepatosplenomegaly Intellectual disability, severe Low-set, posteriorly rotated ears Mitral regurgitation Macrotia Scarring Pointed chin Thick vermilion border Wide mouth Proximal placement of thumb Autistic behavior Protruding ear Intellectual disability, moderate Autism Thrombocytopenia Hernia Epidermal acanthosis Inguinal hernia Cyanosis Joint laxity Pectus carinatum Joint hypermobility Intestinal obstruction Recurrent bacterial infections Hypoplasia of penis Growth hormone deficiency Small hand Short palm Corneal opacity Abnormality of dental enamel Bulbous nose Pigmentary retinopathy Sparse hair Downslanted palpebral fissures Optic atrophy Sleep disturbance Visual loss Low posterior hairline Photophobia Short palpebral fissure Proptosis Short nose Platyspondyly Agenesis of corpus callosum Upslanted palpebral fissure Stereotypy Brachycephaly Delayed puberty Mixed hearing impairment Urticaria Absent septum pellucidum Red hair Scaling skin Hydroureter Erythroderma Absent eyebrow Keratitis Bifid scrotum Abnormality of the vertebral column Unilateral renal agenesis Psoriasiform dermatitis Hyperextensibility of the finger joints Pleural effusion Congenital ichthyosiform erythroderma Corneal erosion Thin eyebrow Alopecia totalis Dentinogenesis imperfecta Olivopontocerebellar atrophy Recurrent corneal erosions Hypoplastic fingernail Heat intolerance Follicular hyperkeratosis Abnormal eyelid morphology Atonic seizures Absent eyelashes Abnormal eyelash morphology Blepharitis Alopecia of scalp Parakeratosis Uveitis Submucous cleft hard palate Oligodactyly Ectrodactyly Opacification of the corneal stroma Abnormality of the hand Hip dislocation Palmoplantar keratoderma Postaxial polydactyly Pulmonary hypoplasia Ichthyosis Dry skin Molluscoid pseudotumors Hypotrichosis Nail dystrophy Papule Camptodactyly of finger Ectodermal dysplasia Erythema Respiratory tract infection Developmental regression Camptodactyly Abnormality of the kidney Mental deterioration Hydronephrosis Umbilical hernia Hyperkeratosis Brain atrophy Nail dysplasia Plagiocephaly Palmoplantar cutis laxa Buphthalmos Conjunctivitis Talipes valgus Hemivertebrae Multicystic kidney dysplasia Abnormality of the nail Abnormality of the hair Abnormal vertebral morphology Hypohidrosis Hypoplasia of dental enamel Specific learning disability Renal dysplasia Aganglionic megacolon Keratoglobus Omphalocele Choanal atresia Abnormality of the ribs Oligohydramnios Eczema Postaxial hand polydactyly Oxycephaly Subcortical cerebral atrophy Alopecia universalis Reduced factor XII activity Broad toe Monocytosis Pulmonary lymphangiectasia Arteritis Abnormality of the mediastinum Reduced factor IX activity Hypoplasia of olfactory tract Cafe-au-lait spot Juvenile myelomonocytic leukemia Chylothorax Hyperpigmentation of the skin Reduced prothrombin activity Reduced factor X activity Abnormality of the subarachnoid space Glaucoma Fine hair Hyperlordosis Epistaxis Retinal detachment Prominent fingertip pads Hypochromic microcytic anemia Cerebral cortical atrophy Hydrocele testis Bilateral ptosis Cubitus valgus Overfolded helix Decreased muscle mass Failure to thrive in infancy Neurodevelopmental delay Abnormal eyebrow morphology Cholelithiasis Facial hypotonia Poor suck Abnormality of the spleen B-cell lymphoma Deep philtrum Bicuspid aortic valve Torticollis Vasculitis Bilateral single transverse palmar creases Aortic valve stenosis Hydrops fetalis Lymphedema Wide intermamillary distance Mitral valve prolapse Cheilitis Cerebral cortical hemiatrophy Megalocornea Cognitive impairment Unilateral chest hypoplasia Soft skin Ichthyosis follicularis Abnormal pelvis bone morphology Thin fingernail Scleritis Hypoplasia of the bladder Paronychia Keratoconus Atypical scarring of skin Episcleritis Spondylolisthesis Hyperconvex fingernails Abnormality of temperature regulation Abnormal nasolacrimal system morphology Abnormality of the thorax Corneal scarring Abnormality of the upper urinary tract Hypertension Disproportionate tall stature Webbed neck Polyhydramnios Lymphoma Abnormal bleeding Bruising susceptibility Falls High myopia Abnormality of the foot Pulmonic stenosis Leukemia Lumbar hyperlordosis Blue sclerae Gait disturbance Congenital hip dislocation Pectus excavatum Abnormality of cardiovascular system morphology Reduced bone mineral density Hyperextensible skin Increased susceptibility to fractures Hallux valgus Splenomegaly Atrial septal defect Polydactyly Neoplasm Hyperhidrosis Laryngomalacia Muscular hypotonia of the trunk Micropenis Frontal hirsutism Infra-orbital crease Pseudohypoparathyroidism Underdeveloped supraorbital ridges Delayed ability to walk Short metatarsal Short metacarpal Convex nasal ridge Broad nasal tip Severe global developmental delay Obesity Abnormality of the skeletal system Brachydactyly Irregular iliac crest Enchondroma Proximal femoral metaphyseal irregularity Cupped ribs Bifid uvula Hypocalcemia Narrow greater sacrosciatic notches Patchy osteosclerosis Biparietal narrowing Chronic otitis media Optic nerve hypoplasia Preauricular skin tag Long face Smooth philtrum Dilated cardiomyopathy Ventricular septal defect Dysphagia Congenital hypoparathyroidism Spinal canal stenosis Hypocalcemic seizures Cellular immunodeficiency Aplasia/Hypoplasia affecting the eye Tetany Decreased circulating cortisol level Hyperphosphatemia Hypoparathyroidism Severe intrauterine growth retardation External ear malformation Aplasia/hypoplasia of the extremities Prominent sternum Increased mean corpuscular volume Overweight Telecanthus Skeletal dysplasia Reduced visual acuity Rod-cone dystrophy Pneumonia Blindness Long foot Turricephaly Long fingers Retinal degeneration Large hands Obsessive-compulsive behavior Exotropia Hypotelorism Narrow forehead Arachnodactyly Short philtrum Blepharophimosis Craniosynostosis Nyctalopia Retinal dystrophy Anterior rib cupping Mild short stature Spondylometaphyseal dysplasia Thoracic dysplasia Ovoid vertebral bodies Thoracic kyphosis Bell-shaped thorax Bronchitis Metaphyseal dysplasia Thoracic hypoplasia Short femoral neck Metaphyseal irregularity Progressive visual loss Neonatal respiratory distress Epiphyseal dysplasia Coxa vara Recurrent pneumonia Short ribs Rhizomelia Bowing of the long bones Abnormality of the metaphysis Limb undergrowth Abnormal hair pattern Colpocephaly Dementia Overgrowth Nephroblastoma Premature ovarian insufficiency Cachexia Reduced tendon reflexes Acanthosis nigricans Increased body weight Insulin resistance Type II diabetes mellitus Decreased antibody level in blood Pulmonary fibrosis Nevus Abdominal distention Hypodontia Cirrhosis Infertility Dolichocephaly Retinopathy Abnormality of the nervous system Diabetes mellitus High pitched voice Slender long bone Congestive heart failure Hypoplastic frontal sinuses Cerebellar hypoplasia Alopecia Recurrent infections Dilatation Immunodeficiency Flexion contracture Cleft palate Pericardial constriction Constrictive pericarditis J-shaped sella turcica Pericarditis Absent frontal sinuses Peripheral edema Fibroma Weak voice Prominent superficial veins Myocardial fibrosis Microglossia Scaphocephaly Insulin-resistant diabetes mellitus Depressivity Dysarthria Single median maxillary incisor Gait ataxia Downturned corners of mouth Thick eyebrow Facial asymmetry Synophrys Microtia Aggressive behavior EEG abnormality Coarse facial features Hyperactivity Prominent nose Constipation Clinodactyly of the 5th finger Clinodactyly Encephalopathy Behavioral abnormality Vomiting Fever Ataxia Periventricular gray matter heterotopia Everted lower lip vermilion Focal-onset seizure Hepatomegaly Tented upper lip vermilion Abnormality of lower lip Paroxysmal bursts of laughter Hemifacial hypoplasia Macrodontia Polyphagia Cupped ear Self-injurious behavior Language impairment Focal impaired awareness seizure Infantile muscular hypotonia Febrile seizures Widely spaced teeth Sandal gap Absence seizures Short chin Finger clinodactyly Generalized hirsutism Low anterior hairline Open mouth Epileptic encephalopathy Decreased corneal thickness



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