Depressed nasal bridge, and Underdeveloped nasal alae

Diseases related with Depressed nasal bridge and Underdeveloped nasal alae

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


Top matches:

High match FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME


Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.

FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME Is also known as alx4-related fndag|frontonasal dysplasia type 2|frontonasal dysplasia with alopecia and genital abnomality|craniofrontonasal dysplasia with alopecia and hypogonadism

Related symptoms:

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME

High match DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY


Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

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

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Other less relevant matches:

High match PONTOCEREBELLAR HYPOPLASIA TYPE 3


Pontocerebellar hypoplasia type 3 (PCH3), also known as cerebellar atrophy with progressive microcephaly (CLAM) is a rare form of pontocerebellar hypoplasia (see this term) with autosomal recessive transmission characterized neonatally by hypotonia and impaired swallowing and from infancy onward by seizures, optic atrophy and short stature, but none of the clinical findings are specific for PCH3.

PONTOCEREBELLAR HYPOPLASIA TYPE 3 Is also known as pch without dyskinesia|cerebellar atrophy with progressive microcephaly|clam|pch with optic atrophy|pch3

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 3

High match PERIPHERAL DYSOSTOSIS


Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERIPHERAL DYSOSTOSIS

High match MEIER-GORLIN SYNDROME 6; MGORS6


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 6; MGORS6

High match FRASER SYNDROME


Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.

FRASER SYNDROME Is also known as cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Cryptorchidism
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRASER SYNDROME

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 VAN DEN ENDE-GUPTA SYNDROME


Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.

VAN DEN ENDE-GUPTA SYNDROME Is also known as marden-walker-like syndrome|vdegs|blepharophimosis, arachnodactyly, and congenital contractures|marden-walker-like syndrome without psychomotor retardation

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about VAN DEN ENDE-GUPTA SYNDROME

High match RAPP-HODGKIN SYNDROME; RHS


RAPP-HODGKIN SYNDROME; RHS Is also known as ectodermal dysplasia, anhidrotic, with cleft lip/palate

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about RAPP-HODGKIN SYNDROME; RHS

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Underdeveloped nasal alae

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Anteverted nares Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Short nose Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Depressed nasal bridge and Underdeveloped nasal alae. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Frontal bossing Cryptorchidism Short stature Intrauterine growth retardation Hypoplasia of the maxilla High palate Everted lower lip vermilion Abnormal facial shape Epicanthus High forehead Thick vermilion border Conductive hearing impairment Midface retrusion Sparse hair Cleft palate Hypospadias Generalized hypotonia Feeding difficulties Conical tooth Microphthalmia Low-set ears Hearing impairment

Rare Symptoms - Less than 30% cases


Dental crowding Abnormality of the skeletal system Asthma Anhidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia Cleft upper lip Clinodactyly of the 5th finger Narrow mouth Protruding ear Malar flattening Hypertension Type I diabetes mellitus Delayed speech and language development Pulmonary hypoplasia Narrow nose Elbow flexion contracture High, narrow palate Macrotia Talipes equinovarus Flexion contracture Eczema Rhinitis Respiratory distress Hypoplastic labia majora Intellectual disability, severe Hypotrichosis Finger syndactyly Wide nasal bridge Delayed eruption of teeth Short chin Hypodontia Subglottic stenosis Laryngomalacia Failure to thrive Ectodermal dysplasia Respiratory tract infection Thin skin Hypohidrosis Sparse and thin eyebrow Umbilical hernia Recurrent respiratory infections Sparse eyelashes Ambiguous genitalia Micrognathia Depressed nasal ridge Encephalocele Calvarial skull defect Full cheeks Growth hormone deficiency Fine hair Strabismus Posteriorly rotated ears Long philtrum Small nail Scrotal hypoplasia Brachycephaly Alopecia Downslanted palpebral fissures Growth delay Abnormality of the dentition Hypoplasia of the corpus callosum Ptosis Intellectual disability, mild Delayed myelination Short distal phalanx of finger Muscular hypotonia Taurodontia Hypoplastic nipples Sparse body hair Absent eyelashes Soft skin Agenesis of permanent teeth Long eyelashes Anodontia Heat intolerance Anterior hypopituitarism Concave nail Absent nipple Agenesis of corpus callosum Abnormal oral mucosa morphology Everted upper lip vermilion Periorbital wrinkles Periorbital hyperpigmentation Aplasia/Hypoplastia of the eccrine sweat glands Hypoplastic-absent sebaceous glands Pectus excavatum Hydronephrosis Aplasia/Hypoplasia of the eyebrow Dysphonia Anhidrosis Coronal craniosynostosis Abnormal vagina morphology Laryngeal stenosis Abnormality of the middle ear Female pseudohermaphroditism Urethral atresia Cryptophthalmos Cleft ala nasi Wide pubic symphysis Lacrimal duct aplasia Midline nasal groove Malformed lacrimal duct Fever Immunodeficiency Absent eyebrow Prominent forehead Hyperhidrosis Dry skin Oligohydramnios Intellectual disability, moderate Microdontia Sparse scalp hair Telecanthus Hypogonadism Hoarse voice Upslanted palpebral fissure Prominent supraorbital ridges Brittle hair Camptodactyly Convex nasal ridge Craniosynostosis Dystrophic toenail Palmoplantar keratoderma Bifid uvula Recurrent otitis media Renal dysplasia Abnormality of dental enamel Widely spaced teeth Coarse hair Abnormality of the voice Supernumerary nipple Non-midline cleft lip Ectrodactyly Submucous cleft hard palate Generalized hyperpigmentation Pili torti Syndactyly Dystrophic fingernails Thick nail Dry hair Cystic renal dysplasia Ankyloblepharon Hyperconvex nail Velopharyngeal insufficiency Trichodysplasia Hyperconvex fingernails Absent lacrimal punctum Pili canaliculi Submucous cleft soft palate Small, conical teeth Progressive alopecia Cleft lip Ventricular septal defect Blepharophimosis Thin ribs Arachnodactyly Triangular face Bicornuate uterus Dandy-Walker malformation Bowing of the long bones Joint contracture of the hand Cardiac arrest Knee flexion contracture Congenital contracture Stridor Hallux valgus Femoral bowing Narrow nasal bridge Slender long bone Dislocated radial head Slender metacarpals Abnormal eyebrow morphology Sclerocornea Single umbilical artery Choanal stenosis Hypoplastic scapulae Eclabion Lateral clavicle hook Long hallux Ulnar bowing Camptodactyly of toe Narrow foot Distal ulnar hypoplasia Glenoid fossa hypoplasia Long metacarpals Vaginal atresia External ear malformation Abnormal hair pattern Skeletal dysplasia Thoracic scoliosis Progressive encephalopathy Hypoplasia of the pons Pontocerebellar atrophy Short philtrum Brachydactyly Clinodactyly Obesity Diabetes mellitus Hyperactivity Autism Hypothyroidism Mandibular prognathia Joint stiffness Hypoplasia of the brainstem Small hand Adducted thumb Tented upper lip vermilion Round face Short metacarpal Infantile muscular hypotonia Osteoarthritis Short phalanx of finger Postnatal microcephaly Accelerated skeletal maturation Increased intracranial pressure Short metatarsal Cone-shaped epiphysis Long palpebral fissure Poor head control Congenital hypothyroidism Hyperreflexia Long nose Underdeveloped supraorbital ridges Proportionate short stature Abnormality of the nares Hypoplastic fifth toenail Abnormality of the columella Seizures Hypertrichosis Scoliosis Ataxia Spasticity Short palpebral fissure Visual impairment Optic atrophy Highly arched eyebrow Edema Cerebellar atrophy Cerebral atrophy Encephalopathy Cerebellar hypoplasia Proptosis Neonatal hypotonia Muscular hypotonia of the trunk Downturned corners of mouth Dyskinesia Hypsarrhythmia Decreased body weight Progressive microcephaly Mild short stature Spinal canal stenosis Bifid tongue Wide intermamillary distance Bronchomalacia Tracheobronchomalacia Nasogastric tube feeding Cataract Blindness Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Toe syndactyly Anal atresia Bifid nose Oral cleft Agenesis of cerebellar vermis Dental malocclusion Broad philtrum Patellar aplasia Hypoplasia of penis Renal hypoplasia Omphalocele Multicystic kidney dysplasia Atresia of the external auditory canal Anophthalmia Vertebral segmentation defect Anal stenosis Open mouth Abnormal lung lobation Myelomeningocele Tracheal stenosis Ectopic anus Entropion Stenosis of the external auditory canal Aciduria Lactic acidosis Cone-shaped epiphyses of the phalanges of the hand Blue irides Fair hair Red hair Chronic rhinitis Metabolic acidosis Bulbous nose Motor delay Hernia Delayed skeletal maturation Hepatic failure Severe short stature Gastroesophageal reflux Acidosis Tracheomalacia Hyperlordosis Microtia Small for gestational age Delayed puberty Single transverse palmar crease Hip dysplasia Lumbar hyperlordosis Nystagmus Microretrognathia Sandal gap Dystonia Short middle phalanx of finger Emphysema Cortical gyral simplification Decreased number of sweat glands



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Dandy-Walker malformation, related diseases and genetic alterations Wide nasal bridge and Heterotopia, related diseases and genetic alterations Hydrocephalus and Gastrointestinal hemorrhage, related diseases and genetic alterations

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