Wide nasal bridge, and Hyporeflexia

Diseases related with Wide nasal bridge and Hyporeflexia

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


Top matches:

High match BENIGN SAMARITAN CONGENITAL MYOPATHY


Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood.

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Motor delay
  • Epicanthus
  • Wide nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about BENIGN SAMARITAN CONGENITAL MYOPATHY

High match PEROXISOME BIOGENESIS DISORDER 3B; PBD3B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3B; PBD3B

High match REFSUM DISEASE, CLASSIC


Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. However, not all patients show all these features. All patients have accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. Other variable features include cardiac dysfunction, nerve deafness, ichthyosis, and multiple epiphyseal dysplasia (review by Skjeldal et al., 1987).Increased levels of phytanic acid can also be found in peroxisomal biogenesis disorders; see Zellweger syndrome (see {214100}) (Skjeldal et al., 1987).Infantile Refsum disease (see PBD1B, {601539}) is a distinct disorder with a different phenotype and genetic basis.A phenotype clinically indistinguishable from that of classic Refsum disease (PBD9B ), but with a different biochemical profile, can be caused by mutation in the gene encoding peroxin-7 (PEX7 ) on chromosome 6q.

REFSUM DISEASE, CLASSIC Is also known as heredopathia atactica polyneuritiformis|hmsn iv|phytanic acid oxidase deficiency|hereditary motor and sensory neuropathy iv|hmsn4|refsum disease, adult, 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about REFSUM DISEASE, CLASSIC

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Other less relevant matches:

High match RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 5


Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life (summary by Wanders and Waterham, 2005).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 5

High match NEONATAL MARFAN SYNDROME


Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.

NEONATAL MARFAN SYNDROME Is also known as neonatal mfs

Related symptoms:

  • Micrognathia
  • Muscular hypotonia
  • Low-set ears
  • Flexion contracture
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about NEONATAL MARFAN SYNDROME

High match DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS


The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as digitorenocerebral syndrome|eronen syndrome|drc syndrome|door syndrome|brachydactyly due to absence of distal phalanges

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

High match PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE


Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

High match SMITH-MAGENIS SYNDROME


Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about SMITH-MAGENIS SYNDROME

High match CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1


Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Genetic Heterogeneity of Crisponi/Cold-Induced Sweating SyndromeCrisponi/cold-induced sweating syndrome-2 (CISS2 ), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (OMIM ) on chromosome 11q13. CISS3 (OMIM ) is caused by mutation in the KLHL7 gene (OMIM ) on chromosome 7p15.

CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1 Is also known as crisponi syndrome|sohar-crisponi syndrome|muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1

High match CEREBROFACIOTHORACIC DYSPLASIA


Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.

CEREBROFACIOTHORACIC DYSPLASIA Is also known as pascual-castroviejo syndrome type 1|cerebrofaciothoracic dysplasia

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CEREBROFACIOTHORACIC DYSPLASIA

Top 5 symptoms//phenotypes associated to Wide nasal bridge and Hyporeflexia

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
Muscular hypotonia Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Wide nasal bridge and Hyporeflexia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Peripheral neuropathy Micrognathia Generalized hypotonia Sensorineural hearing impairment Anteverted nares Delayed speech and language development Motor delay Feeding difficulties Low-set ears Neonatal hypotonia Microcephaly Hearing impairment High palate Cataract Epicanthus Attention deficit hyperactivity disorder Pes cavus Short stature Growth delay Flexion contracture Short nose Spasticity Cryptorchidism Mandibular prognathia Pes planus Polyneuropathy Intellectual disability, severe Scoliosis Myopia Talipes equinovarus Cleft palate Strabismus Nystagmus Dolichocephaly Ataxia

Rare Symptoms - Less than 30% cases


High myopia Downslanted palpebral fissures Narrow forehead Decreased fetal movement Hepatomegaly Hypohidrosis Underdeveloped nasal alae Wide nose Peripheral demyelination Constipation Large face Deeply set eye Synophrys Pectus carinatum Joint hypermobility Short neck Adducted thumb Hypoplasia of the corpus callosum Overlapping toe Renal agenesis Polyhydramnios Wide mouth Abnormality of the nervous system Brachydactyly Highly arched eyebrow Respiratory distress Cleft upper lip Long philtrum Anosmia Narrow mouth Flat face Depressed nasal bridge Ventriculomegaly Midface retrusion Ptosis Upslanted palpebral fissure Rod-cone dystrophy Brachycephaly Hypothyroidism Arrhythmia Areflexia Malar flattening Blindness Leukodystrophy Anxiety Feeding difficulties in infancy Hypertriglyceridemia Dyspnea Hyperhidrosis Delayed puberty Abnormality of cardiovascular system morphology Clinodactyly Renal insufficiency Kyphoscoliosis Kyphosis Hypertonia Obesity Clinodactyly of the 5th finger Exodeviation Bifid ribs Facial palsy Retrognathia Fever Camptodactyly Apnea Toe syndactyly Irritability Frontal bossing Blepharophimosis Carious teeth Gait disturbance Falls Short philtrum Short palm Neurological speech impairment Respiratory insufficiency Corticospinal tract hypoplasia Cognitive impairment Self-injurious behavior EEG abnormality Gastroesophageal reflux Conductive hearing impairment Abnormal form of the vertebral bodies Stereotypy Hoarse voice Hypercholesterolemia Renal hypoplasia/aplasia Tented upper lip vermilion Precocious puberty Failure to thrive in infancy Hand polydactyly Chronic otitis media Impaired pain sensation Pain Abnormality of the ureter Joint stiffness Taurodontia Abnormal localization of kidney Poliosis Microcornea Broad forehead Sleep disturbance Delayed eruption of primary teeth Hyperacusis Retinal detachment Abnormal tracheobronchial morphology Open mouth Aplasia/Hypoplasia of the corpus callosum Vertebral segmentation defect Bull's eye maculopathy Low-set, posteriorly rotated ears Thick eyebrow Oral cleft Unsteady gait Talipes Narrow chest Craniosynostosis Postnatal growth retardation Abnormality of the kidney Cleft lip Vesicoureteral reflux Sprengel anomaly Self-mutilation Hydronephrosis Beaking of vertebral bodies Cerebral cortical atrophy Abnormal hair pattern Rectovaginal fistula Posteriorly rotated ears Hypoplasia of the maxilla Growth hormone deficiency Patent ductus arteriosus Vertebral fusion Supernumerary nipple Large for gestational age Coarse hair Sacral dimple Sparse eyelashes Hemivertebrae Low anterior hairline Sparse and thin eyebrow Shawl scrotum Wide intermamillary distance Gingival overgrowth Tall stature Long eyelashes Intention tremor Low posterior hairline Cerebellar vermis hypoplasia Abnormality of the ribs Postaxial hand polydactyly Inguinal hernia Pectus excavatum Hyperextensibility of the finger joints Recurrent urinary tract infections Acute kidney injury Limited elbow extension Opisthotonus Disproportionate tall stature Keratitis Radial deviation of finger Nasal speech Elbow flexion contracture Interphalangeal joint contracture of finger Malignant hyperthermia Generalized-onset seizure Dehydration Neurodevelopmental delay Round face Limitation of joint mobility Full cheeks Sudden cardiac death Tapered finger Episodic fever Narrow nose Hernia Hypernatremic dehydration Absent speech Atrial septal defect Tremor Macrocephaly Abnormal facial shape Cold-induced sweating Facial tics Smooth tongue Bilateral camptodactyly Trismus Conical tooth Broad philtrum Unexplained fevers Hypopnea Temperature instability Velopharyngeal insufficiency Central apnea Rib fusion Cyanosis Hypopigmented skin patches Spasmus nutans Broad-based gait Metaphyseal cupping Thoracic scoliosis Generalized amyotrophy Short femoral neck Metaphyseal irregularity Congenital contracture Coxa vara Decreased body weight Asthma Sinus tachycardia Sensory neuropathy Congenital cataract Severe short stature Abnormality of the skeletal system Muscle weakness Elevated levels of phytanic acid Hyperoxaluria Short fourth metatarsal Vertical nystagmus Small for gestational age Miosis Tricuspid regurgitation Long toe Abnormal echocardiogram Hypoxemia Megalocornea Aortic root aneurysm Lipoatrophy Long fingers Emphysema Neonatal respiratory distress Arachnodactyly Heart murmur Ectopia lentis Cutis laxa Mitral regurgitation Blue sclerae Mitral valve prolapse Decreased testicular size High, narrow palate Abnormal renal physiology Multiple epiphyseal dysplasia Ascending tubular aorta aneurysm Frog-leg posture Abnormal bleeding Single transverse palmar crease Retinal dystrophy Dry skin Osteoporosis Dysarthria Visual impairment Failure to thrive Internally nucleated skeletal muscle fibers Decreased liver function Functional respiratory abnormality Centrally nucleated skeletal muscle fibers Weak cry Myopathic facies Fasciculations Thickened skin Lethargy Prominent forehead Depressed nasal ridge Abnormal electroretinogram Increased CSF protein Renal cyst Epiphyseal stippling Epiphyseal dysplasia Bilateral ptosis Progressive hearing impairment Sensorimotor neuropathy Cardiomegaly Pigmentary retinopathy Sensory impairment Retinal degeneration Steatorrhea Ichthyosis Limb muscle weakness Nyctalopia Congestive heart failure Cardiomyopathy Very long chain fatty acid accumulation Esodeviation Hypocholesterolemia Enlarged thorax Tricuspid valve prolapse Long-segment aganglionic megacolon Torticollis Abnormal eyebrow morphology Hypopigmentation of hair Congenital nystagmus Premature graying of hair Intestinal obstruction Portal hypertension Decreased nerve conduction velocity CNS hypomyelination Spastic paraparesis Heterochromia iridis Abnormal autonomic nervous system physiology Aganglionic megacolon Spastic tetraplegia Tetraplegia Coma Hypopigmentation of the skin Distal sensory impairment Distal amyotrophy Blue irides White hair Prominent nasal bridge Spotty hyperpigmentation Dysmyelinating leukodystrophy Absent brainstem auditory responses Hypoplasia of the semicircular canal Myelin outfoldings Neonatal asphyxia Hypoplasia of the cochlea Meconium ileus Peripheral hypomyelination Decreased lacrimation Demyelinating peripheral neuropathy Cerebral dysmyelination Microcolon White eyebrow White eyelashes Alacrima Intestinal pseudo-obstruction Ileus White forelock Arthrogryposis multiplex congenita Abnormal pyramidal sign Iridodonesis Coarse facial features Nail dysplasia Prominent nose Everted lower lip vermilion Downturned corners of mouth Short distal phalanx of finger Bulbous nose Nail dystrophy Respiratory tract infection High forehead Dandy-Walker malformation Recurrent respiratory infections Abnormal heart morphology Cerebral atrophy Optic atrophy Increased arm span Crumpled ear Talipes calcaneovarus Abnormal cardiac ventricle morphology Abnormality of the skin Bilateral sensorineural hearing impairment Distal muscle weakness Prominent nasal tip Telecanthus Hepatosplenomegaly Abdominal pain Hypogonadism Myoclonus Splenomegaly Hypertension Profound sensorineural hearing impairment Cystic renal dysplasia Hypsarrhythmia Hypoplasia of the iris Severe sensorineural hearing impairment Infantile spasms Anonychia Triphalangeal thumb Abnormal dermatoglyphics Abnormality of the fingernails Short phalanx of finger Small nail Microdontia of primary teeth



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Psychosis, related diseases and genetic alterations Edema and Long philtrum, related diseases and genetic alterations Skeletal muscle atrophy and Respiratory insufficiency, related diseases and genetic alterations High palate and Hypotrichosis, related diseases and genetic alterations Ataxia and Gastroesophageal reflux, related diseases and genetic alterations Microcephaly and Apraxia, related diseases and genetic alterations Global developmental delay and Failure to thrive, related diseases and genetic alterations

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