Depressed nasal bridge, and Everted lower lip vermilion

Diseases related with Depressed nasal bridge and Everted lower lip vermilion

In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Everted lower lip vermilion that can help you solving undiagnosed cases.


Top matches:

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38


MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 Is also known as psychomotor retardation, epilepsy, and language disability syndrome|prelds

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38

High match IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2


Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2

High match ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD11B


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 (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD11B Is also known as eda|ectodermal dysplasia, hypohidrotic|hed|ectodermal dysplasia, anhidrotic

Related symptoms:

  • Depressed nasal bridge
  • Fever
  • Recurrent respiratory infections
  • Hyperhidrosis
  • Respiratory tract infection


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD11B

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Other less relevant matches:

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27


Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27

High match NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA


NEDMAGA is a neurodevelopmental disorder characterized by infantile-onset global developmental delay with severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy (summary by Palmer et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA

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 MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C


Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA.For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C Is also known as sanfilippo syndrome c|mps iiic|acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C

High match AXENFELD-RIEGER SYNDROME


Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.

AXENFELD-RIEGER SYNDROME Is also known as axenfeld syndrome|anterior chamber cleavage syndrome|rieger syndrome, type 3|rieger syndrome|axenfeld-rieger anomaly with cardiac defects and/or sensorineural hearing loss

Related symptoms:

  • Hearing impairment
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AXENFELD-RIEGER SYNDROME

High match SCHEIE SYNDROME


Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

SCHEIE SYNDROME Is also known as mps v, formerly|mucopolysaccharidosis type 1s|mps5, formerly|mps1-s|mps1s|mucopolysaccharidosis type v, formerly|mpsis|mucopolysaccharidosis type is

Related symptoms:

  • Sensorineural hearing impairment
  • Visual impairment
  • Depressed nasal bridge
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHEIE SYNDROME

High match HEART AND BRAIN MALFORMATION SYNDROME; HBMS


Heart and brain malformation syndrome is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HEART AND BRAIN MALFORMATION SYNDROME; HBMS

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Everted lower lip vermilion

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Depressed nasal bridge and Everted lower lip vermilion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Thick vermilion border Microcephaly Abnormal facial shape Respiratory tract infection Prominent forehead Anteverted nares Hypodontia Generalized hypotonia Short nose

Rare Symptoms - Less than 30% cases


Failure to thrive Highly arched eyebrow Ectodermal dysplasia Splenomegaly Hypohidrosis Sparse eyelashes Absent eyebrow Anhidrosis Agenesis of permanent teeth Hypoplastic nipples Rhinitis Abnormal cardiac septum morphology Anodontia Cerebellar vermis hypoplasia Hepatomegaly Absent nipple Anhidrotic ectodermal dysplasia Short distal phalanx of finger Full cheeks Posteriorly rotated ears Hypohidrotic ectodermal dysplasia Periorbital wrinkles Clinodactyly Midface retrusion Hearing impairment Microdontia Hypotrichosis Hernia Motor delay Epicanthus Dysostosis multiplex Gastroesophageal reflux Cerebral atrophy Absent speech Sensorineural hearing impairment Wide nasal bridge Downturned corners of mouth Open mouth High palate Hyperactivity Recurrent respiratory infections Short chin Sparse hair Hyperhidrosis Glaucoma Coarse facial features Hypertrichosis Joint stiffness Visual impairment Aplasia/Hypoplasia of the iris Rieger anomaly Hypoplastic iris stroma Short neck Skeletal dysplasia Abnormality of the skeletal system Abnormal anterior chamber morphology Retinal vein occlusion Ureteral stenosis Pes cavus Abnormality of the hypothalamus-pituitary axis Anterior segment developmental abnormality Peters anomaly Mandibular prognathia Telecanthus Concave nasal ridge Abnormal heart morphology Ovoid thoracolumbar vertebrae Dense calvaria Cellular metachromasia Atrial septal defect Malar flattening Abnormality of cardiovascular system morphology Hypospadias Patent ductus arteriosus Proptosis Ectopia pupillae Wide mouth Hypoplasia of the maxilla Congenital diaphragmatic hernia Bilateral sensorineural hearing impairment Redundant skin Anal stenosis Aniridia Posterior embryotoxon Hypoplasia of the iris Apnea Abnormality of peripheral nerve conduction Corneal opacity Narrow forehead Polyhydramnios Muscular hypotonia of the trunk Cleft lip Camptodactyly Abnormality of the pinna Camptodactyly of finger High, narrow palate Sepsis Brain atrophy Dandy-Walker malformation Interphalangeal joint contracture of finger Hypoplasia of the corpus callosum Thick lower lip vermilion Wide anterior fontanel Aplasia/Hypoplasia of the corpus callosum Global brain atrophy Prominent occiput Poor eye contact Hyperactive deep tendon reflexes Prominent metopic ridge Widow's peak Delayed CNS myelination Interrupted aortic arch Microphthalmia Ventricular septal defect Genu valgum Stridor Retinal degeneration Wide nose Syncope Limitation of joint mobility Aortic valve stenosis Situs inversus totalis Spastic paraparesis Aortic regurgitation Cerebral palsy Sleep apnea Obstructive sleep apnea Hyperreflexia Spinal cord compression Mitral stenosis Broad face Spondylolisthesis Constrictive median neuropathy Heparan sulfate excretion in urine Mucopolysacchariduria Abnormal nerve conduction velocity Urinary glycosaminoglycan excretion Cervical cord compression Tricuspid atresia Thickened ribs Soft skin Asymmetric septal hypertrophy Long nose Ptosis Intrauterine growth retardation Intellectual disability, mild Short philtrum Underdeveloped nasal alae Growth hormone deficiency Small nail Short palpebral fissure Long eyelashes Underdeveloped supraorbital ridges Abnormal number of teeth Proportionate short stature Abnormality of the nares Hypoplastic fifth toenail Abnormality of the columella Pain Spasticity Feeding difficulties Peripheral neuropathy Macrocephaly Short stature Abnormality of the forehead Hyporeflexia Pneumonia Downslanted palpebral fissures Intellectual disability, severe Deeply set eye Neonatal hypotonia Aggressive behavior Generalized tonic-clonic seizures Tented upper lip vermilion Immunodeficiency Recurrent infections Retrognathia Conical tooth Round face Decreased antibody level in blood Agammaglobulinemia Chronic bronchitis Fever Dry skin Sparse scalp hair Keratoconjunctivitis sicca Xerostomia Sparse lateral eyebrow Hypertonia Constipation Motor deterioration Kyphoscoliosis Sparse body hair Heat intolerance Anterior hypopituitarism Everted upper lip vermilion Periorbital hyperpigmentation Dysphagia Diarrhea Behavioral abnormality Rod-cone dystrophy Umbilical hernia Palmoplantar hyperkeratosis Hepatosplenomegaly Dolichocephaly Synophrys Hirsutism Sleep disturbance Growth abnormality Coarse hair Recurrent upper respiratory tract infections Restlessness Loss of speech Aplasia/Hypoplasia of the eyebrow Oligodontia Cerebral cortical atrophy Progressive spasticity Autism Unsteady gait Thick eyebrow Esotropia Broad-based gait Stereotypy Progressive microcephaly Widely spaced teeth Prominent supraorbital ridges Tics Type I diabetes mellitus Broad columella Happy demeanor Hypertension Frontal bossing Hyperkeratosis Delayed eruption of teeth Depressed nasal ridge Thin skin Sparse and thin eyebrow Hoarse voice Hand clenching



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