Abnormal facial shape, and Wide nose

Diseases related with Abnormal facial shape and Wide nose

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


Top matches:

Medium match ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13


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. Ectodermal dysplasia-13 of the hair/tooth type is characterized by severe oligodontia accompanied by anomalies of hair and skin (Issa et al., 2016).

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Wide nasal bridge
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13

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 TRICHOHEPATOENTERIC SYNDROME 2; THES2


Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about TRICHOHEPATOENTERIC SYNDROME 2; THES2

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Other less relevant matches:

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 MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE


Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.

MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE Is also known as facial dysmorphism, intellectual disability, and primordial dwarfism|alazami syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE

Medium match CRANIOFACIAL-DEAFNESS-HAND SYNDROME


Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.

CRANIOFACIAL-DEAFNESS-HAND SYNDROME Is also known as sommer-young-wee-frye syndrome|cdhs

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOFACIAL-DEAFNESS-HAND SYNDROME

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 MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

Medium match PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME


Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME

Medium match CRISPONI SYNDROME


Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.

Related symptoms:

  • Seizures
  • Scoliosis
  • Micrognathia
  • Cognitive impairment
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about CRISPONI SYNDROME

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

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Thin upper lip vermilion Delayed speech and language development Microcephaly Depressed nasal bridge Generalized hypotonia Narrow mouth Failure to thrive Feeding difficulties Smooth philtrum Malar flattening Poor speech Seizures Prominent nose

Rare Symptoms - Less than 30% cases


Anteverted nares Broad-based gait High palate Flexion contracture Short chin Unsteady gait Micrognathia Constipation Triangular face Long philtrum Wide mouth Anxiety Low-set ears Scoliosis Short philtrum Autistic behavior Ptosis Growth delay Autism Camptodactyly of finger Thick vermilion border Prominent forehead Upslanted palpebral fissure Intrauterine growth retardation Mildly elevated creatine phosphokinase Cupped ear Limited wrist movement Malignant hyperthermia Impaired social interactions Aplasia/Hypoplasia involving the nose Frequent falls Spasticity Full cheeks Muscle weakness Limitation of joint mobility Intention tremor Pain Abnormality of the nervous system Tremor Intellectual disability, mild Broad nasal tip Everted lower lip vermilion Falls Elevated serum creatine phosphokinase Brachycephaly Hypohidrosis Chronic constipation Dystonia Hypoplasia of the corpus callosum Abnormal cardiac septum morphology Impulsivity Strabismus Peripheral neuropathy Areflexia Abnormal heart morphology Gait ataxia Joint laxity Abnormality of the foot Tapered finger Distal sensory impairment Sensory impairment Decreased nerve conduction velocity Failure to thrive in infancy Decreased number of peripheral myelinated nerve fibers Onion bulb formation Delayed ability to walk Hip dysplasia Prominent nasal bridge Behavioral abnormality Hypertonia Sudden cardiac death Syringomyelia Cerebral atrophy Absent speech Hyperhidrosis Hernia Kyphosis Respiratory insufficiency Attention deficit hyperactivity disorder Cognitive impairment Ulnar deviation of the hand or of fingers of the hand Demyelinating peripheral neuropathy Hyperactivity High forehead Gastroesophageal reflux Umbilical hernia Ulnar deviation of the wrist Short nose Lacrimal duct atresia Hepatitis Diarrhea Immunodeficiency Abnormality of the liver Sparse hair Small for gestational age Cirrhosis Chronic diarrhea Anemia Brittle hair Colitis Microcytic anemia Woolly hair Villous atrophy Trichorrhexis nodosa Hypochromic microcytic anemia Hepatomegaly Posterior synechiae of the anterior chamber Chronic hepatitis Agenesis of permanent teeth Hypodontia Ectodermal dysplasia Low anterior hairline Sparse eyelashes Oligodontia Reduced number of teeth Thin eyebrow Large beaked nose Microphthalmia Visual loss Retrognathia Dental malocclusion Convex nasal ridge Ectopia lentis Iris atrophy Bloody diarrhea Intractable diarrhea Ulnar deviation of the hand High, narrow palate Hearing impairment Sensorineural hearing impairment Clinodactyly Telecanthus Blepharophimosis Flat face Hypoplasia of the maxilla Decreased body weight Bilateral sensorineural hearing impairment Interphalangeal joint contracture of finger Depressed nasal ridge Narrow face Congenital sensorineural hearing impairment Ulnar deviation of finger Abnormality of the wrist Widely spaced teeth Deeply set eye Pili canaliculi Long face Uncombable hair Decreased serum iron Obesity Aggressive behavior Intellectual disability, moderate Dolichocephaly Pointed chin Severe short stature Truncal obesity Polyphagia Overweight Broad eyebrow Long eyebrows Short stature Intellectual disability, severe Large face



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