Frontal bossing, and Microcornea

Diseases related with Frontal bossing and Microcornea

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


Top matches:

High match COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD


Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract


SOURCES: OMIM MENDELIAN

More info about COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD

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 PELVISCAPULAR DYSPLASIA


Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.

PELVISCAPULAR DYSPLASIA Is also known as craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature|familial pelvis-scapular dysplasia|cousin syndrome|pelviscapular dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PELVISCAPULAR DYSPLASIA

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Other less relevant matches:

High match SMITH-MAGENIS SYNDROME


Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about SMITH-MAGENIS SYNDROME

High match FAMILIAL BENIGN CHRONIC PEMPHIGUS


Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL BENIGN CHRONIC PEMPHIGUS

High match X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA


X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.

X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA Is also known as x-linked chondrodysplasia punctata type 2|cpxd|cdpxd|conradi-hunermann-happle syndrome|happle syndrome|conradi-hunermann syndrome|cdpx2|chondrodystrophia calcificans congenita|conradi-h√únermann-happle syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA

High match TEMTAMY SYNDROME


Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

High match SHORT SYNDROME


SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

SHORT SYNDROME Is also known as lipodystrophy-rieger anomaly-diabetes syndrome|short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay|aarskog-ose-pande syndrome|lipodystrophy, partial, with rieger anomaly and short stature|rieger anomaly-partial

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT SYNDROME

High match WALKER-WARBURG SYNDROME


Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

High match PETERS PLUS SYNDROME


Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.

PETERS PLUS SYNDROME Is also known as peters anomaly with short-limb dwarfism|krause-kivlin syndrome|krause-van schooneveld-kivlin syndrome|peters anomaly with short limb dwarfism

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PETERS PLUS SYNDROME

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

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Microphthalmia

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay

Common Symptoms - More than 50% cases


Myopia

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Corneal opacity Hydronephrosis Clinodactyly of the 5th finger Intellectual disability Glaucoma Brachydactyly Cleft palate Sensorineural hearing impairment Low-set ears Ventriculomegaly Hip dislocation Short palpebral fissure Deeply set eye Toe syndactyly Seizures Microcephaly Nystagmus Optic atrophy Talipes equinovarus Abnormality of the skeletal system Telecanthus Severe short stature Hydrocephalus Abnormality of the pinna Rhizomelia Congenital hip dislocation Abnormal facial shape Generalized hypotonia Cryptorchidism Scoliosis Short palm Agenesis of corpus callosum Abnormal heart morphology Dilatation Intellectual disability, severe Intrauterine growth retardation Ptosis Anal atresia Depressed nasal bridge Alopecia Flexion contracture Growth delay Aplasia/Hypoplasia of the corpus callosum Cleft upper lip Midface retrusion Short nose Strabismus Iris coloboma Downslanted palpebral fissures Posteriorly rotated ears Failure to thrive Delayed speech and language development Abnormality of the dentition Long philtrum Clinodactyly Short foot Delayed eruption of teeth Coloboma Brachycephaly

Rare Symptoms - Less than 30% cases


Short chin Upslanted palpebral fissure Malar flattening Depressivity Feeding difficulties in infancy Polyhydramnios Conductive hearing impairment Pes planus Intellectual disability, moderate Mandibular prognathia Hypothyroidism Short toe Peters anomaly Hyporeflexia Delayed skeletal maturation Protruding ear Anteverted nares Esotropia Wide nasal bridge Thin vermilion border Muscular hypotonia Small hand Intellectual disability, profound Neurological speech impairment Bilateral sensorineural hearing impairment Limb undergrowth Hypoplasia of teeth Microdontia Cleft lip Flat face Small for gestational age Sparse hair Erythema Skeletal dysplasia Kyphoscoliosis Hyperkeratosis Epicanthus Retinal detachment Birth length less than 3rd percentile Joint hyperflexibility Rieger anomaly Concave nasal ridge Megalocornea Renal hypoplasia/aplasia Syndactyly Congenital glaucoma Decreased fetal movement Premature graying of hair Dandy-Walker malformation Postnatal growth retardation Decreased body weight Ventricular septal defect Preauricular pit Stenosis of the external auditory canal Triangular face Dental malocclusion Underdeveloped nasal alae Visual impairment Hypoplasia of the corpus callosum Prominent forehead Atrial septal defect Dental crowding Short neck Abnormality of dental enamel Sparse eyelashes Congenital cataract Inguinal hernia Hypodontia Joint laxity Hemivertebrae Abnormality of pelvic girdle bone morphology Bilobate gallbladder Skeletal muscle atrophy Muscle weakness Abnormality of the zygomatic bone Hypoplastic facial bones Abnormality of the skin Downturned corners of mouth Enlarged epiphyses Progressive visual loss Nephrocalcinosis Abnormality of the mandible Narrow naris Abnormal anterior chamber morphology Excessive wrinkled skin Dimple chin Blindness Myopathy Abnormal pupil morphology Areflexia Agenesis of maxillary lateral incisor Relative macrocephaly Thin skin Thick lower lip vermilion Abnormality of the face Elevated serum creatine phosphokinase Genu varum Convex nasal ridge Cerebellar hypoplasia Proptosis Increased body weight Abnormal palate morphology Aortic regurgitation Joint hypermobility Increased intraocular pressure Premature skin wrinkling Scleral staphyloma Colpocephaly Hyperglycemia Short upper lip Lens luxation Radial deviation of finger Lop ear Lipodystrophy Glucose intolerance Short 2nd toe Posterior staphyloma Macrotia Hernia Weight loss Prominent supraorbital ridges Profound global developmental delay Neurogenic bladder Diabetes mellitus Chorioretinal coloboma Hypoplasia of the iris Posterior embryotoxon Insulin-resistant diabetes mellitus Aortic aneurysm Poor appetite Hypotrichosis Abnormality of the immune system Congenital nystagmus Insulin resistance Reduced subcutaneous adipose tissue Unilateral renal agenesis Intestinal fistula Anterior chamber synechiae Opacification of the corneal stroma Bowing of the legs Lipoatrophy Anterior hypopituitarism Retinopathy Low-set, posteriorly rotated ears Short metacarpal Round face Brain atrophy Single transverse palmar crease Micromelia Smooth philtrum Pulmonic stenosis Abnormal cardiac septum morphology Craniosynostosis Wide mouth Thin upper lip vermilion Wide intermamillary distance Umbilical hernia Cerebral cortical atrophy Pes cavus Pectus excavatum Hypospadias Cerebral atrophy Abnormal aldolase level Thick cerebral cortex Aplasia/Hypoplasia involving the skeletal musculature Hypoplastic male external genitalia Webbed neck Wide anterior fontanel Abnormal lactate dehydrogenase activity Biliary tract abnormality Retinal coloboma Hypoplastic labia majora Diastasis recti Short columella Broad neck Hypoplasia of the uterus Blurred vision Proximal placement of thumb Short metatarsal Ureteral duplication Abnormality of the pulmonary artery Preauricular skin tag Limited elbow movement Clitoral hypoplasia Mesomelic short stature Exaggerated cupid's bow Hypoplasia of the vagina Disproportionate short-limb short stature Short lingual frenulum Sacral dimple Spina bifida occulta Intellectual disability, progressive Multicystic kidney dysplasia Chorioretinal dysplasia Macrogyria Square pelvis bone Encephalocele Anophthalmia Congenital muscular dystrophy Congenital contracture Atresia of the external auditory canal Optic nerve hypoplasia Lissencephaly Severe muscular hypotonia Renal dysplasia Heterotopia Pachygyria Cerebellar vermis hypoplasia Abnormality of neuronal migration Hypoplasia of penis Communicating hydrocephalus Specific learning disability Bifid uvula Retinal dystrophy Polymicrogyria Oral cleft Abnormality of the cerebral white matter Muscular dystrophy Microtia Facial hypertrichosis Hypoplasia of the brainstem Absent septum pellucidum Severe hydrocephalus Agyria Metatarsus valgus Conical incisor Abnormality of the cerebellar vermis Abnormal levels of creatine kinase in blood Aplasia/hypoplasia of the extremities Hypoglycosylation of alpha-dystroglycan Meningoencephalocele Posterior fossa cyst Remnants of the hyaloid vascular system Excessive daytime sleepiness Cerebellar cyst Occipital encephalocele Type II lissencephaly Cerebellar dysplasia Muscle fiber splitting Aqueductal stenosis Renal agenesis Abnormality of the optic nerve Abnormal cortical gyration Retinal dysplasia Bilateral cleft lip Retinal atrophy Submucous cleft hard palate Buphthalmos Talipes Prominent nose Abnormality of the skull base Constipation Obesity Abnormality of cardiovascular system morphology Gait disturbance Peripheral neuropathy Abnormality of the joint spaces of the elbow Anterior rounding of vertebral bodies Absent proximal finger flexion creases Prominent protruding coccyx Mesomelic leg shortening EEG abnormality Microtia, first degree Alveolar ridge overgrowth Facial hirsutism 4-5 toe syndactyly Hypoplastic pubic bone Ambiguous genitalia, female Hypoplastic ischia Long clavicles Humeroradial synostosis Gastroesophageal reflux Anxiety Hydranencephaly Hypercholesterolemia Taurodontia Abnormality of the ureter Impaired pain sensation Self-injurious behavior Chronic otitis media Hand polydactyly Failure to thrive in infancy Precocious puberty Tented upper lip vermilion Hoarse voice Joint stiffness Stereotypy Abnormal form of the vertebral bodies Open mouth Hypertriglyceridemia Sleep disturbance Delayed puberty Synophrys Broad forehead Short philtrum Attention deficit hyperactivity disorder Wrist flexion contracture Fibular aplasia Large face Sparse scalp hair Large earlobe Mild global developmental delay Spinal cord compression Narrow nose Basal ganglia calcification Long nose Hyperostosis Abnormality of dental morphology Large fontanelles Fine hair Cranial hyperostosis Overgrowth Hypoplasia of the maxilla Narrow mouth Generalized hypopigmentation Blue irides Osteopetrosis Shallow orbits Albinism Congenital sensorineural hearing impairment Cutaneous syndactyly of toes Broad long bones Ambiguous genitalia, male 2-3 toe syndactyly Redundant neck skin Hypoplastic ilia Short femur Hypoplastic iliac wing Hypoplastic scapulae Microglossia Bell-shaped thorax Dislocated radial head Mesomelia Redundant skin Persistent pupillary membrane Narrow palpebral fissure Elbow flexion contracture Joint contracture of the hand Low posterior hairline Blepharophimosis Camptodactyly 2-4 toe cutaneous syndactyly 4-5 finger syndactyly Fifth finger distal phalanx clinodactyly Macrodontia of permanent maxillary central incisor Abnormal localization of kidney Delayed eruption of primary teeth Highly arched eyebrow Abnormality of the thorax Dry hair Tracheal stenosis Patellar dislocation Foot polydactyly Epiphyseal stippling Congenital ichthyosiform erythroderma Aplasia/Hypoplasia of the skin Bilateral talipes equinovarus Erythroderma Scaling skin Butterfly vertebrae Coarse hair Abnormality of the fingernails Joint dislocation Sparse and thin eyebrow Abnormal vertebral morphology Abnormality of epiphysis morphology Hip dysplasia Postaxial polydactyly Ichthyosis Abnormality of hair texture Scarring alopecia of scalp Polydactyly Intellectual disability, mild Long face Facial asymmetry Dolichocephaly Mental deterioration Coarse facial features Autism Gait ataxia Patent ductus arteriosus Absent speech Congestive heart failure Hemiatrophy Spasticity Stippled calcification in carpal bones Tarsal stippling Elevated 8(9)-cholestenol Elevated 8-dehydrocholesterol Punctate vertebral calcifications Tracheal calcification Hyperkeratosis with erythema Vertebral wedging Patchy alopecia Abnormality of the nervous system Kyphosis Hyperacusis Skin rash Sarcoma Dermal atrophy Neoplasm of the skin Short thumb Telangiectasia Cutaneous photosensitivity Growth hormone deficiency Hypopigmentation of the skin Nail dystrophy Hypogonadism Squamous cell carcinoma Osteoporosis Diarrhea Vomiting Hypertension Feeding difficulties Anemia Neoplasm Corticospinal tract hypoplasia Abnormal tracheobronchial morphology Pyloric stenosis Basal cell carcinoma Edema Acantholysis Forearm reduction defects Zonular cataract Bilateral radial aplasia Juvenile cataract Annular pancreas Duodenal stenosis Iris atrophy Aplasia/Hypoplasia of the patella Skin erosion Patellar aplasia Agenesis of permanent teeth Rectovaginal fistula Poikiloderma Osteosarcoma Absent radius Proportionate short stature Aplasia/Hypoplasia of the thumb Anteriorly placed anus Increased number of teeth Skin vesicle Absent thumb Microtia, second degree



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Delayed speech and language development and High forehead, related diseases and genetic alterations Edema and Hip dysplasia, related diseases and genetic alterations High palate and Hyporeflexia, related diseases and genetic alterations Obesity and Macrocephaly, related diseases and genetic alterations Scoliosis and Prominent forehead, related diseases and genetic alterations Generalized hypotonia and Micropenis, related diseases and genetic alterations Global developmental delay and Pes cavus, related diseases and genetic alterations

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