Frontal bossing, and Microtia

Diseases related with Frontal bossing and Microtia

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


Top matches:

High match SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE; SMDMDM

SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE; SMDMDM Is also known as chondrodysplasia, megarbane-dagher-melki type;

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: MESH MONDO ORPHANET OMIM UMLS

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE; SMDMDM

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7 Is also known as walker-warburg syndrome or muscle-eye-brain disease, ispd-related

Related symptoms:

  • Autosomal recessive inheritance
  • Generalized hypotonia
  • Pica
  • Cataract
  • Low-set ears


SOURCES: OMIM MONDO UMLS

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: DOID MONDO NCIT MESH UMLS OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 1; MRD1

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Other less relevant matches:

High match MEIER-GORLIN SYNDROME 6; MGORS6

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Strabismus


SOURCES: UMLS MONDO OMIM

More info about MEIER-GORLIN SYNDROME 6; MGORS6

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is a genetically heterogeneous autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and early death. The phenotype commonly includes cobblestone (type II) lissencephaly, cerebellar malformations, and retinal malformations. More variable features include macrocephaly or microcephaly, hypoplasia of midline brain structures, ventricular dilatation, microphthalmia, cleft lip/palate, and congenital contractures (Dobyns et al., 1989). Those with a more severe phenotype characterized as Walker-Warburg syndrome often die within the first year of life, whereas those characterized as having muscle-eye-brain disease may rarely acquire the ability to walk and to speak a few words. These are part of a group of disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (Godfrey et al., 2007). Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies (Type A)Muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is genetically heterogeneous and can be caused by mutation in other genes involved in DAG1 glycosylation: see MDDGA2 (OMIM ), caused by mutation in the POMT2 gene (OMIM ); MDDGA3 (OMIM ), caused by mutation in the POMGNT1 gene (OMIM ); MDDGA4 (OMIM ), caused by mutation in the FKTN gene (OMIM ); MDDGA5 (OMIM ), caused by mutation in the FKRP gene (OMIM ); MDDGA6 (OMIM ), caused by mutation in the LARGE gene (OMIM ); MDDGA7 (OMIM ), caused by mutation in the ISPD gene (OMIM ); MDDGA8 (OMIM ) caused by mutation in the GTDC2 gene (OMIM ); MDDGA9 (OMIM ), caused by mutation in the DAG1 gene (OMIM ); MDDGA10 (OMIM ), caused by mutation in the TMEM5 gene (OMIM ); MDDGA11 (OMIM ), caused by mutation in the B3GALNT2 gene (OMIM ); MDDGA12 (OMIM ), caused by mutation in the SGK196 gene (OMIM ); MDDGA13 (OMIM ), caused by mutation in the B3GNT1 gene (OMIM ); and MDDGA14 (OMIM ), caused by mutation in the GMPPB gene (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomt1-related, hydrocephalus, agyria, and retinal dysplasia, hard syndrome, cerebroocular dysplasia-muscular dystrophy syndrome, cod-md syndrome;hard syndrome; hydrocephalus-agyria-retinal dysplasia syndrome; wws

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: NCIT OMIM ORPHANET MONDO SCTID

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1

High match COUSIN SYNDROME

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

COUSIN SYNDROME Is also known as craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature, pelviscapular dysplasia;cousin syndrome; familial pelvis-scapular dysplasia

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism


SOURCES: MESH UMLS GARD MONDO SCTID OMIM ORPHANET

More info about COUSIN SYNDROME

High match TREACHER-COLLINS SYNDROME

Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.

TREACHER-COLLINS SYNDROME Is also known as franceschetti-klein syndrome; mandibulofacial dysostosis without limb anomalies

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Micrognathia
  • Strabismus
  • Failure to thrive


SOURCES: UMLS SCTID ORPHANET

More info about TREACHER-COLLINS SYNDROME

High match TRICHOHEPATOENTERIC SYNDROME 1; THES1

Although the spectrum of phenotypic expression in trichohepatoenteric syndrome (THES) is broad, the characteristic features include intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhea in infancy requiring total parenteral nutrition, and immunodepression. Hepatic involvement contributes to the poor prognosis of affected patients (summary by Fabre et al., 2007). Genetic Heterogeneity of Trichohepatoenteric SyndromeTrichohepatoenteric syndrome-2 (THES2 ) is caused by mutation in the SKIV2L gene (OMIM ) on chromosome 6p21.

TRICHOHEPATOENTERIC SYNDROME 1; THES1 Is also known as the syndrome, diarrhea, syndromic, diarrhea, fatal infantile, with trichorrhexis nodosa;phenotypic diarrhea; sd/the; syndromic diarrhea/tricho-hepato-enteric syndrome; tricho-hepato-enteric syndrome; trichohepatoenteric syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Pica


SOURCES: OMIM UMLS MONDO ORPHANET SCTID

More info about TRICHOHEPATOENTERIC SYNDROME 1; THES1

High match ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED

Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED Is also known as alpha-thalassemia/mental retardation syndrome, deletion-type, atr-16 syndrome, atr, deletion-type, hemoglobin h-related mental retardation;hbhr, mental retardation with hemoglobin h, chromosome 16p deletion syndrome;atr syndrome linked to chromosome 16; atr syndrome, deletion type; atr-16 syndrome; alpha thalassemia-intellectual disability syndrome, deletion type; alpha thalassemia-mental retardation syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: OMIM UMLS ORPHANET DOID MONDO MESH SCTID

More info about ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED

High match MEIER-GORLIN SYNDROME 1; MGORS1

The Meier-Gorlin syndrome is a rare disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by Shalev and Hall, 2003). While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal (Bicknell et al., 2011). Genetic Heterogeneity of Meier-Gorlin SyndromeMost forms of Meier-Gorlin syndrome are autosomal recessive disorders, including Meier-Gorlin syndrome-1; Meier-Gorlin syndrome-2 (OMIM ), caused by mutation in the ORC4 gene (OMIM ) on chromosome 2q23; Meier-Gorlin syndrome-3 (OMIM ), caused by mutation in the ORC6 gene (OMIM ) on chromosome 16q11; Meier-Gorlin syndrome-4 (OMIM ), caused by mutation in the CDT1 gene (OMIM ) on chromosome 16q24; Meier-Gorlin syndrome-5 (OMIM ), caused by mutation in the CDC6 gene (OMIM ) on chromosome 17q21; Meier-Gorlin syndrome-7 (OMIM ), caused by mutation in the CDC45L gene (OMIM ) on chromosome 22q11; and Meier-Gorlin syndrome-8 (OMIM ), caused by mutation in the MCM5 gene (OMIM ) on chromosome 22q12.An autosomal dominant form of the disorder, Meier-Gorlin syndrome-6 (OMIM ), is caused by mutation in the GMNN gene (OMIM ) on chromosome 6p22.

MEIER-GORLIN SYNDROME 1; MGORS1 Is also known as ear, patella, short stature syndrome;eps, microtia, absent patellae, micrognathia syndrome, meier-gorlin syndrome;meier-gorlin syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Pica


SOURCES: ORPHANET MONDO SCTID UMLS OMIM

More info about MEIER-GORLIN SYNDROME 1; MGORS1

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Low-set ears Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Cryptorchidism Failure to thrive Strabismus Intellectual disability Retrognathia Cleft palate Posteriorly rotated ears Depressed nasal bridge Cataract Generalized hypotonia Microcephaly Anteverted nares Microphthalmia Abnormal facial shape Intrauterine growth retardation Growth delay Downslanted palpebral fissures Small for gestational age Hernia Pica Narrow mouth Bifid uvula Short neck Clinodactyly of the 5th finger Hydrocephalus Hearing impairment Macrocephaly Severe short stature Encephalocele Hypoplasia of penis Respiratory insufficiency Gastroesophageal reflux Delayed skeletal maturation Wide nasal bridge High palate Feeding difficulties Motor delay Wide mouth Talipes equinovarus Seizures Short nose Autosomal dominant inheritance

Rare Symptoms - Less than 30% cases


Short palm Dental crowding Delayed puberty Respiratory tract infection Conductive hearing impairment Low anterior hairline Midface retrusion Feeding difficulties in infancy Sandal gap Protruding ear Thick vermilion border Broad forehead Small hand Abnormality of the genital system Depressed nasal ridge Atresia of the external auditory canal Patent ductus arteriosus Malar flattening Abnormality of the hair Anemia Long philtrum Joint contracture of the hand Short palpebral fissure Inguinal hernia Camptodactyly Blepharophimosis Abnormality of the pinna Abnormality of the skeletal system Underdeveloped supraorbital ridges Submucous cleft hard palate Specific learning disability Pectus carinatum Microcornea Iris coloboma Cleft upper lip Congenital cataract Heterogeneous Flexion contracture Hypospadias Muscular hypotonia Micropenis High forehead Patellar aplasia Hypoplastic labia majora Stenosis of the external auditory canal Emphysema Clinodactyly Prominent forehead Hypoplasia of the maxilla Retinal detachment Large fontanelles Retinal dysplasia Short ribs Hypoplasia of the brainstem Optic nerve hypoplasia Lissencephaly Heterotopia Dandy-Walker malformation Intellectual disability, profound Pachygyria Polymicrogyria Type II lissencephaly Muscular dystrophy Deeply set eye Glaucoma Cerebellar hypoplasia Areflexia Elevated serum creatine phosphokinase Coma Bell-shaped thorax Hypoplasia of the corpus callosum Ventriculomegaly Peters anomaly Hypoplastic ischia Remnants of the hyaloid vascular system Visual impairment Myopia Delayed speech and language development Postnatal growth retardation Intellectual disability, severe Ptosis Wide nose Sepsis Hepatic failure Premature birth Aciduria Tetralogy of Fallot Absent sternal ossification Clitoral hypoplasia Abnormality of dental enamel Preauricular skin tag Pancytopenia Fine hair Chronic diarrhea Hepatic fibrosis Aortic regurgitation Short ear Leukopenia Woolly hair Trichorrhexis nodosa Osteochondritis Dissecans Abnormal thrombocyte morphology Peripheral pulmonary artery stenosis Large forehead Villous atrophy Abnormality of the pancreas Abnormal lip morphology Thrombocytosis Pulmonic stenosis Curly hair Flat glenoid fossa Breast aplasia Choanal atresia Abnormality of the immune system Hypoalbuminemia Recurrent upper respiratory tract infections Brittle hair Cirrhosis Sparse hair Glossoptosis Multiple enchondromatosis Abnormality of the patella Edema Ventricular septal defect Hepatomegaly Microtia, third degree Cognitive impairment Short face Narrow internal auditory canal Hypoplasia of the zygomatic bone Eyelid coloboma Branchial fistula Absent eyelashes Abnormality of bone mineral density Abnormality of the adrenal glands Abnormality of the middle ear Thyroid hypoplasia Hypoplasia of the thymus Rectovaginal fistula Blepharospasm Chondritis Diarrhea Jaundice Tracheoesophageal fistula Elevated hepatic transaminase Reduced number of teeth Proptosis Scrotal hypoplasia Abnormal heart morphology Abnormality of dental morphology Osteoporosis Polyhydramnios Birth length less than 3rd percentile Hypoplastic labia minora Lateral clavicle hook Increased mean platelet volume Open bite Dysphasia Mandibular aplasia Facial cleft Small anterior fontanelle Abnormality of the vertebral column Thrombocytopenia Immunodeficiency Bilateral talipes equinovarus Anotia Tics Craniosynostosis Dyspnea Camptodactyly of finger Joint laxity Thin ribs Hypogonadism Respiratory failure Respiratory distress Scoliosis Arthrogryposis multiplex congenita Hemoglobin H Triangular nasal tip Flat forehead Reduced alpha/beta synthesis ratio Contiguous gene syndrome Hypochromic anemia Asymmetry of the thorax Hypochromic microcytic anemia Prominent nasal bridge Joint hyperflexibility Shawl scrotum Long eyelashes Clitoral hypertrophy Increased body weight Abnormality of the outer ear Slender long bone Elbow dislocation Genu varum Abnormality of pelvic girdle bone morphology Hemivertebrae Abnormality of epiphysis morphology Genu valgum Proportionate short stature Thin skin Microdontia Thick lower lip vermilion Abnormality of the ribs High, narrow palate Joint hypermobility Talipes Aplasia/Hypoplasia of the earlobes Severe hearing impairment Intermittent diarrhea Cutaneous finger syndactyly Absent glenoid fossa Fatigue Nevus Epicanthus Abnormalities of placenta or umbilical cord Abnormality of iron homeostasis Large placenta Galactosuria Hypergalactosemia Unilateral cryptorchidism Renal cortical microcysts Hypermethioninemia Increased serum iron Secretory diarrhea Aplastic clavicle Aplasia/Hypoplasia of the patella Intractable diarrhea Epispadias Obesity Hyperconvex nail Aseptic necrosis Supernumerary nipple Disproportionate short stature Narrow nose Myelomeningocele Incomplete partition of the cochlea type II Breech presentation Protruding tongue Meningocele Microcytic anemia Aplasia/Hypoplasia of the eyebrow Intellectual disability, moderate Radial deviation of finger Spina bifida Short toe Webbed neck Macroglossia Bruising susceptibility Breast hypoplasia Neurological speech impairment Low-set, posteriorly rotated ears Humoral immunodeficiency Excessive daytime sleepiness Skeletal dysplasia Open mouth Language impairment Focal seizures with impairment of consciousness or awareness Short chin Tented upper lip vermilion Finger clinodactyly Widely spaced teeth Absence seizures Epileptic encephalopathy Prominent nose Infantile muscular hypotonia Febrile seizures Esotropia Focal seizures Sleep disturbance Astigmatism Highly arched eyebrow Short foot Downturned corners of mouth Everted lower lip vermilion Cupped ear Self-injurious behavior Bulbous nose Growth hormone deficiency Entropion Tracheomalacia Cortical gyral simplification Short middle phalanx of finger Laryngomalacia Microretrognathia Short phalanx of finger Lumbar hyperlordosis Hip dysplasia Polyphagia Underdeveloped nasal alae Delayed myelination Single transverse palmar crease Hyperlordosis Umbilical hernia Recurrent respiratory infections Abnormality of lower lip Hemifacial hypoplasia Short attention span Thick eyebrow Hypermetropia Subglottic stenosis Wormian bones Squared iliac bones Severe platyspondyly Spondylometaphyseal dysplasia Metaphyseal cupping Delayed epiphyseal ossification Tachypnea Deep philtrum Short long bone Cardiomegaly Oxycephaly Wide anterior fontanel Pulmonary arterial hypertension Limb undergrowth Round face Narrow chest Micromelia Platyspondyly Muscular hypotonia of the trunk Congestive heart failure Iliac crest serration Facial palsy Facial asymmetry Vomiting Autistic behavior Aggressive behavior Thin upper lip vermilion EEG abnormality Autism Coarse facial features Gait ataxia Encephalopathy Behavioral abnormality Decreased fetal movement Fever Ataxia Neural tube defect Corpus callosum atrophy Weak cry Gonadal dysgenesis Partial agenesis of the corpus callosum Adducted thumb Trophic changes related to pain Bronchomalacia Tracheobronchomalacia Brachycephaly Elbow flexion contracture Hypoplastic ilia Hypoplastic iliac wing Mesomelia Dislocated radial head 2-3 toe syndactyly Narrow palpebral fissure Redundant skin Congenital hip dislocation Rhizomelia Short femur Low posterior hairline Toe syndactyly Hip dislocation Hydronephrosis Brachydactyly Abnormal aldolase level Thick cerebral cortex Aplasia/Hypoplasia involving the skeletal musculature Abnormal levels of creatine kinase in blood Hypoplastic scapulae Microglossia Abnormal lactate dehydrogenase activity Facial hirsutism Abnormality of the dentition Abnormality of the joint spaces of the elbow Anterior rounding of vertebral bodies Absent proximal finger flexion creases Abnormality of the skull base Prominent protruding coccyx Microtia, first degree Mesomelic leg shortening 4-5 toe syndactyly Ambiguous genitalia, male Alveolar ridge overgrowth Hypoplastic pubic bone Ambiguous genitalia, female Hydranencephaly Long clavicles Humeroradial synostosis Wrist flexion contracture Redundant neck skin Fibular aplasia Severe hydrocephalus Hypoplastic male external genitalia Nasogastric tube feeding Coloboma Retinal atrophy Renal dysplasia Cerebellar vermis hypoplasia Spontaneous abortion Retinal dystrophy Abnormality of the cerebral white matter Cleft lip Corneal opacity Anal atresia Congenital muscular dystrophy Retinopathy Agenesis of corpus callosum Dilatation Hyporeflexia Blindness Skeletal muscle atrophy Optic atrophy Myopathy Muscle weakness Severe muscular hypotonia Anophthalmia Chorioretinal dysplasia Buphthalmos Abnormality of the cerebellar vermis Metatarsus valgus Meningoencephalocele Macrogyria Posterior fossa cyst Juvenile cataract Cerebellar dysplasia Muscle fiber splitting Aqueductal stenosis Cerebellar cyst Cephalocele Abnormality of the optic nerve Abnormal cortical gyration Bilateral cleft lip Megalocornea Congenital glaucoma Absent septum pellucidum Occipital encephalocele Abnormality of neuronal migration Congenital contracture Morgagni diaphragmatic hernia



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Frontal bossing and Glucose intolerance, related diseases and genetic alterations