Abnormal facial shape, and Prominent nose

Diseases related with Abnormal facial shape and Prominent nose

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Prominent nose that can help you solving undiagnosed cases.


Top matches:

Medium match FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME


Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.

FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME Is also known as fdlab syndrome|ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism|traboulsi syndrome|facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome

Related symptoms:

  • Abnormal facial shape
  • Downslanted palpebral fissures
  • Microphthalmia
  • Visual loss
  • Retrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15

Medium match POLYVALVULAR HEART DISEASE SYNDROME


Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.

POLYVALVULAR HEART DISEASE SYNDROME Is also known as phd syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Micrognathia
  • Ptosis
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about POLYVALVULAR HEART DISEASE SYNDROME

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Other less relevant matches:

Medium match NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL


NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL

Medium match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE


BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE Is also known as bmrs, mkb type|bmrs, maat-kievit-brunner type|blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type|blepharophimosis-mental retardation syndrome, maat-kievit-brunner type|x-linked ohdo syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE

Medium match VERVERI-BRADY SYNDROME; VERBRAS


Ververi-Brady syndrome is a disorder characterized by mild developmental delay, mild intellectual disability and speech delay, and mild dysmorphic facial features. Affected individuals can usually attend mainstream schools with support, and may also show autistic features (summary by Ververi et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VERVERI-BRADY SYNDROME; VERBRAS

Medium match DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA


Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.

DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA Is also known as microdontia-type i microtia-deafness syndrome|deafness, congenital, with labyrinthine aplasia, microtia, and microdontia|deafness with lamm|lamm syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA

Medium match MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13


Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

Medium match SEVERE INTELLECTUAL DISABILITY-SHORT STATURE-BEHAVIORAL ABNORMALITIES-FACIAL DYSMORPHISM SYNDROME


Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability with limited or absent speech and language, short stature, acquired microcephaly, kyphoscoliosis or scoliosis, and behavioral disturbances that include hyperactivity, stereotypy and aggressiveness. Facial dysmorphism, that typically includes sloping forehead, mild synophrys, deep-set eyes, strabismus, anteverted large ears, prominent nose and dental malposition, is also characteristic.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-SHORT STATURE-BEHAVIORAL ABNORMALITIES-FACIAL DYSMORPHISM SYNDROME

Medium match NANCE-HORAN SYNDROME


Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.

NANCE-HORAN SYNDROME Is also known as cataract-dental syndrome|mesiodens-cataract syndrome|cataract, x-linked, with hutchinsonian teeth

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Cataract


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NANCE-HORAN SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Prominent nose

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Prominent nose. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Strabismus Long face Ptosis Seizures Delayed speech and language development Wide nose Growth delay Smooth philtrum Thin upper lip vermilion Wide nasal bridge Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases


Sloping forehead Autism Low-set ears Abnormality of the pinna Intrauterine growth retardation Clinodactyly Upslanted palpebral fissure Narrow mouth Widely spaced teeth Increased number of teeth Macrotia Small hand Broad nasal tip Underdeveloped nasal alae Anteverted ears Behavioral abnormality Abnormality of the dentition Autistic behavior Hearing impairment Cataract Synophrys Visual loss Dolichocephaly Short philtrum Intellectual disability, moderate Aggressive behavior Pointed chin Microphthalmia Cerebellar hypoplasia Agenesis of corpus callosum Aplasia of the inner ear Absent speech Cardiomyopathy Severe short stature Craniosynostosis Short foot Spasticity Absent stapes Pneumonia Sutural cataract Multiple impacted teeth Skin tags Tall stature Abnormality of the outer ear Delayed gross motor development Congenital sensorineural hearing impairment High hypermetropia Arachnoid cyst Abnormal cranial nerve morphology Broad finger Conical tooth Supernumerary maxillary incisor Posterior Y-sutural cataract Mesiodens Profound sensorineural hearing impairment Microtia, first degree Cochlear aplasia Round face Short phalanx of finger Mild short stature Microdontia Microcornea Retinal detachment Narrow face Congenital cataract Prominent nasal bridge Protruding ear Mandibular prognathia Reduced visual acuity Glaucoma Blindness Visual impairment Cognitive impairment Hypophosphatemia Blurred vision Nystagmus Cortical gyral simplification Lymphopenia Stereotypy Narrow nasal bridge Severe vision loss Deeply set eye Kyphoscoliosis Hyperactivity Recurrent infections Pendular nystagmus Anodontia Metaphyseal sclerosis Restrictive cardiomyopathy Diastema Short metacarpal Partial agenesis of the corpus callosum Tremor Hypodontia Aortic valve stenosis Broad forehead Pulmonic stenosis Joint hyperflexibility Abnormality of the skin Mitral valve prolapse Dental crowding Tricuspid regurgitation Arrhythmia Abnormal heart valve morphology Epicanthus Myopia Abnormality of the skeletal system Pes planus Abnormality of the cerebral white matter Delayed skeletal maturation High palate Short palpebral fissure Posterior synechiae of the anterior chamber Retrognathia Dental malocclusion Convex nasal ridge Ectopia lentis Iris atrophy Large beaked nose Malar flattening Long eyebrows Obesity Short chin Truncal obesity Polyphagia Overweight Broad eyebrow Hypermetropia Postnatal microcephaly Microtia Falls Intellectual disability, mild Elevated serum creatine phosphokinase Brachycephaly Abnormality of the nervous system Wide mouth Unsteady gait Everted lower lip vermilion Generalized hypotonia Intention tremor Frequent falls Cupped ear Mildly elevated creatine phosphokinase Impaired social interactions Sensorineural hearing impairment Pain Scrotal hypoplasia Sandal gap Long philtrum Overlapping toe Broad hallux Slender finger Cryptorchidism Feeding difficulties Depressed nasal bridge Coarse facial features Cafe-au-lait spot Carcinoma Blepharophimosis Joint hypermobility Thin vermilion border Bulbous nose Triangular face Decreased body weight Screwdriver-shaped incisors



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