Frontal bossing, and Thick vermilion border

Diseases related with Frontal bossing and Thick vermilion border

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


Top matches:

High match THREE M SYNDROME 2; 3M2


THREE M SYNDROME 2; 3M2 Is also known as 3m syndrome 2

Related symptoms:

  • Short stature
  • Frontal bossing
  • Anteverted nares
  • Short neck
  • Long philtrum


SOURCES: OMIM MESH MENDELIAN

More info about THREE M SYNDROME 2; 3M2

High match ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B Is also known as eda|ectodermal dysplasia, hypohidrotic|hed|ectodermal dysplasia, anhidrotic

Related symptoms:

  • Depressed nasal bridge
  • Hypertension
  • Frontal bossing
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B

High match JOUBERT SYNDROME 10; JBTS10


Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

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Other less relevant matches:

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49


Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49

High match XQ25 MICRODUPLICATION SYNDROME


Xq25 duplication syndrome is an X-linked neurodevelopmental disorder characterized by delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected (summary by Leroy et al., 2016).

XQ25 MICRODUPLICATION SYNDROME Is also known as xq25 microtriplication|dup(x)(q25)

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about XQ25 MICRODUPLICATION SYNDROME

High match SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A


Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH ) and sulfite oxidase (SUOX ), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). Genetic Heterogeneity of Molybdenum Cofactor DeficiencySee also MOCOD, complementation group B (MOCODB ), caused by mutation in the MOCS2 gene (OMIM ) on chromosome 5q11; and MOCOD, complementation group C (MOCODC ), caused by mutation in the GPHN gene (OMIM ) on chromosome 14q24.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A Is also known as sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type a|mocod type a

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A

High match FOCAL FACIAL DERMAL DYSPLASIA TYPE III


Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.

FOCAL FACIAL DERMAL DYSPLASIA TYPE III Is also known as focal facial dermal dysplasia 3, setleis type|setleis syndrome|ffdd type iii|ffdd3|brauer-setleis syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE III

High match SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B


Molybdenum cofactor deficiency is a rare autosomal recessive metabolic disorder characterized by neonatal onset of intractable seizures, opisthotonus, and facial dysmorphism associated with hypouricemia and elevated urinary sulfite levels. Affected individuals show severe neurologic damage and often die in early childhood (summary by Reiss et al., 1999).For a general phenotypic description and a discussion of genetic heterogeneity of MOCOD, see MOCODA (OMIM ), which is clinically indistinguishable from MOCODB.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B Is also known as combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type b|mocod type b

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE B

High match X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

High match MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D


The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

Top 5 symptoms//phenotypes associated to Frontal bossing and Thick vermilion border

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Frontal bossing and Thick vermilion border. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties Low-set ears Short distal phalanx of finger Everted lower lip vermilion Hyperactivity Macrocephaly Sparse hair Depressed nasal ridge Short nose Nystagmus Absent speech Hypoplasia of the corpus callosum Ventriculomegaly Abnormal facial shape Spastic tetraplegia Microcephaly EEG abnormality Epicanthus Long philtrum Growth delay Hypertension

Rare Symptoms - Less than 30% cases


Encephalopathy Hirsutism Feeding difficulties in infancy Hypertonia Deeply set eye Coarse facial features Hydrocephalus Anxiety Cerebellar vermis hypoplasia Short philtrum Severe global developmental delay Hyperreflexia Short stature Behavioral abnormality Axonal loss Prominent forehead Absent eyelashes Xanthine nephrolithiasis Xanthinuria Increased urinary hypoxanthine Molybdenum cofactor deficiency Increased urinary taurine Hypouricemia Myoclonic spasms Lens luxation Opisthotonus Aggressive behavior Ectopia lentis Spastic tetraparesis Tetraparesis Peripheral demyelination Full cheeks Gliosis Long face Cerebral atrophy Hypertelorism Highly arched eyebrow Sleep disturbance Thick eyebrow Sparse body hair Delayed eruption of teeth Anhidrotic ectodermal dysplasia Absent nipple Anterior hypopituitarism Heat intolerance Hypodontia Anodontia Soft skin Hypohidrotic ectodermal dysplasia Hypoplastic nipples Anteverted nares Agenesis of permanent teeth Absent eyebrow Hypotrichosis Anhidrosis Hyperhidrosis Downslanted palpebral fissures Ectodermal dysplasia Sparse and thin eyebrow Wide nasal bridge Hoarse voice Type I diabetes mellitus Everted upper lip vermilion Periorbital hyperpigmentation Sparse eyelashes Periorbital wrinkles Hypohidrosis Thin skin Malar flattening Microdontia Short neck Aplasia/Hypoplasia of the eyebrow Intellectual disability, severe Respiratory distress Abnormality of the dentition Immunodeficiency Fever Diffuse cerebral atrophy Cardiorespiratory arrest Recurrent infections Irritability Aplasia cutis congenita Downturned corners of mouth Broad nasal tip Horizontal nystagmus Hypopigmented skin patches Redundant skin Aplasia/Hypoplasia of the skin Multiple cafe-au-lait spots Prematurely aged appearance Abnormal eyelash morphology Congenital horizontal nystagmus Sparse lateral eyebrow Abnormal hair pattern Periorbital fullness Lacrimation abnormality Abnormality of the upper urinary tract Dimple chin Distichiasis Abnormality of the sacroiliac joint Sparse lower eyelashes Recurrent respiratory infections Short chin Respiratory tract infection Progressive hearing impairment Difficulty walking Joint stiffness Wide mouth Synophrys Thick lower lip vermilion Hypertrichosis Chronic diarrhea Drooling Diarrhea Recurrent upper respiratory tract infections Coarse hair Growth abnormality Dysostosis multiplex Asymmetric septal hypertrophy Heparan sulfate excretion in urine Thickened ribs Ovoid thoracolumbar vertebrae Splenomegaly Dysphagia Dry skin Rhinitis Hypoplasia of the maxilla Underdeveloped nasal alae Eczema Sparse scalp hair Anal atresia Dysphonia Prominent supraorbital ridges Brittle hair Taurodontia Dysarthria Conical tooth Concave nail Abnormal oral mucosa morphology Aplasia/Hypoplastia of the eccrine sweat glands Hypoplastic-absent sebaceous glands Hearing impairment Flexion contracture Hepatomegaly Bulbous nose Protruding ear Scarring Holoprosencephaly Dandy-Walker malformation Epileptic encephalopathy Cerebral calcification Hypotelorism Open mouth Long eyelashes Thick upper lip vermilion Tetraplegia Fusion of the left and right thalami Delayed speech and language development Palmoplantar hyperkeratosis Cerebellar hypoplasia Posteriorly rotated ears Autism Mandibular prognathia Prominent nose Muscular hypotonia of the trunk Autistic behavior Intellectual disability, profound Rod-cone dystrophy Polydactyly Motor delay Ataxia Polymicrogyria Postaxial polydactyly Encephalocele Macrotia Deep philtrum Molar tooth sign on MRI Enlarged cisterna magna Infra-orbital crease Spasticity Optic atrophy Myoclonus Oligodontia Broad forehead Upslanted palpebral fissure Decreased urinary sulfate Triangular face Abnormal muscle tone Dolichocephaly Hyperlordosis Midface retrusion Sulfite oxidase deficiency Increased urinary sulfite Scapular winging Reduced xanthine dehydrogenase activity Increased urinary thiosulfate Decreased urinary urate Absent urinary urothione Aldehyde oxidase deficiency Micrognathia Strabismus Pointed chin Slender long bone Smooth philtrum Long nose Gingival overgrowth Widely spaced teeth Schizophrenia Sparse eyebrow Obsessive-compulsive behavior Neurodevelopmental delay Facial hypotonia Prominent nasal tip Brain atrophy Neuronal loss in central nervous system Hyperkeratosis Progressive microcephaly Poor head control Hemiplegia Prominent calcaneus Cellular metachromasia



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