Depressed nasal bridge, and Dysphagia

Diseases related with Depressed nasal bridge and Dysphagia

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


Top matches:

High match CRISPONI/COLD-INDUCED SWEATING SYNDROME 3; CISS3


Crisponi/cold-induced sweating syndrome-3 is an autosomal recessive disorder characterized by infantile-onset hyperthermia and abnormal paroxysmal contractions of the facial and oropharyngeal muscles, resulting in feeding and respiratory difficulties. Other features include joint contractures and camptodactyly. Death in infancy may occur, and those that survive may develop retinitis pigmentosa later in childhood. Individuals with some forms of Crisponi syndrome may develop paradoxical cold-induced sweating later in childhood, although this is a variable finding (summary by Angius et al., 2016).For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (OMIM ).

Related symptoms:

  • Flexion contracture
  • High palate
  • Feeding difficulties
  • Depressed nasal bridge
  • Fever


SOURCES: OMIM MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 3; CISS3

High match NOONAN SYNDROME 7; NS7


Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 7; NS7

High match FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3


HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., {157900}), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by Vogel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see {601471}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3

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Other less relevant matches:

High match LENNOX-GASTAUT SYNDROME


Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ptosis
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about LENNOX-GASTAUT SYNDROME

High match MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D


The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

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 GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE


Glycine encephalopathy with normal serum glycine is a severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy. The disorder is similar to, but distinct from, glycine encephalopathy (GCE ) due to mutations in genes encoding the glycine cleavage system (summary by Kurolap et al., 2016).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE

High match PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY


Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY Is also known as pseudoneonatal adrenoleukodystrophy|pseudo-neonatal adrenoleukodystrophy|pseudo-nald|pseudoadrenoleukodystrophy|straight-chain acyl-coa oxidase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY

High match ATELOSTEOGENESIS TYPE I


Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.

ATELOSTEOGENESIS TYPE I Is also known as mecp2 duplication syndrome|aoi|giant cell chondrodysplasia|mental retardation, x-linked, with recurrent respiratory infections|spondylo-humero-femoral dysplasia|atelosteogenesis type 1|mental retardation, x-linked, syndromic, lubs type|ao1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE I

High match LEPRECHAUNISM


Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

LEPRECHAUNISM Is also known as donohue syndrome|leprechaunism

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LEPRECHAUNISM

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Dysphagia

Symptoms // Phenotype % cases
Low-set ears Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Hearing impairment Abnormal facial shape Flexion contracture Microcephaly Hyperactivity Ptosis Hypertrichosis Anteverted nares Failure to thrive Hirsutism Hepatomegaly Hypoplasia of the corpus callosum Intellectual disability, severe Behavioral abnormality Dolichocephaly Recurrent respiratory infections Feeding difficulties

Rare Symptoms - Less than 30% cases


Hyperreflexia Intellectual disability, progressive Joint stiffness Coarse facial features Absent speech Splenomegaly Frontal bossing Abnormality of metabolism/homeostasis Tented upper lip vermilion Brachycephaly Cryptorchidism Synophrys Gingival overgrowth Autistic behavior Developmental regression Severe global developmental delay Aggressive behavior EEG abnormality Gastroesophageal reflux Wide mouth Recurrent infections Optic atrophy Muscular hypotonia of the trunk Hypertonia Respiratory tract infection Umbilical hernia Hernia Cellular metachromasia Ovoid thoracolumbar vertebrae Thickened ribs Respiratory failure Asymmetric septal hypertrophy Sleep disturbance Dysostosis multiplex High palate Growth abnormality Coarse hair Recurrent upper respiratory tract infections Macrotia Drooling Spasticity Thick lower lip vermilion Heparan sulfate excretion in urine Diarrhea Myoclonus Rod-cone dystrophy Prominent forehead Cognitive impairment Scoliosis Strabismus Sensorineural hearing impairment Delayed speech and language development Epicanthus Dysarthria Short nose Midface retrusion Posteriorly rotated ears Short stature Short neck Esotropia Abnormality of the skeletal system Abnormality of the dentition Encephalopathy Downslanted palpebral fissures Macrocephaly No social interaction Hand polydactyly Abnormal electroretinogram Intellectual disability, profound Aganglionic megacolon Lower limb spasticity Stereotypy Aspiration Severe muscular hypotonia Infantile muscular hypotonia Abnormality of visual evoked potentials Optic nerve hypoplasia Poor head control Premature ovarian insufficiency Myotonia Progressive spasticity Poor eye contact Hypoventilation Leukodystrophy Central hypotonia Facial hypotonia Inverted nipples Prominent nipples Diffuse hepatic steatosis Absence of subcutaneous fat Ataxia Abnormality of nervous system morphology Elfin facies Postprandial hyperglycemia Myopathy Malar flattening Female pseudohermaphroditism Depressivity Patent ductus arteriosus Constipation Pneumonia Chorea Adipose tissue loss Narrow mouth Autism Tapetoretinal degeneration CNS demyelination Rigidity Anxiety Poor speech Decreased light- and dark-adapted electroretinogram amplitude Neurodegeneration Hypothyroidism Infantile axial hypotonia Chronic constipation Type II diabetes mellitus Decreased muscle mass Bilateral sensorineural hearing impairment Glucose intolerance Hyperglycemia Feeding difficulties in infancy Postnatal growth retardation Small for gestational age Thick vermilion border High, narrow palate Abdominal distention Nail dysplasia Epidermal acanthosis Low-set, posteriorly rotated ears Cholestasis Hepatic fibrosis Large hands Clitoral hypertrophy Insulin resistance Gynecomastia Generalized hirsutism Acanthosis nigricans Cutis laxa Cachexia Precocious puberty Hypermelanotic macule Reduced subcutaneous adipose tissue Bruxism Fasting hypoglycemia Pancreatic islet-cell hyperplasia Central hypoventilation Abnormality of the abdominal wall Thick nasal alae Hyperinsulinemia Hostility Growth delay Intrauterine growth retardation Skeletal muscle atrophy Long penis Inguinal hernia Delayed skeletal maturation Lipoatrophy Ovarian cyst Severe short stature Small face Concave nasal ridge Long foot Severe failure to thrive Hyperkeratosis Proptosis Thickened nuchal skin fold Hearing abnormality Hypoglycemia Severe intrauterine growth retardation Spastic tetraplegia Elbow flexion contracture Generalized-onset seizure Enlarged cisterna magna High forehead Mental deterioration Generalized tonic-clonic seizures Falls Generalized myoclonic seizures Focal-onset seizure Epileptic encephalopathy Relative macrocephaly Atonic seizures Abnormality of the periventricular white matter Generalized tonic seizures Accommodative esotropia Abnormality of brainstem morphology Personality disorder Atypical absence seizures Frontotemporal cerebral atrophy CNS infection EEG with focal sharp slow waves Difficulty walking Thick eyebrow Chronic diarrhea Progressive hearing impairment Motor delay Cerebral atrophy Esophoria Hepatosplenomegaly Hyperpigmentation of the skin Fever Respiratory distress Hyperhidrosis Camptodactyly Full cheeks Cold-induced sweating Atrial septal defect Pectus carinatum Pulmonic stenosis Webbed neck Narrow forehead Poor suck High-frequency hearing impairment Mild short stature Thickened helices Micrognathia Facial palsy Paralysis Hypermetropia Smooth philtrum Downturned corners of mouth High hypermetropia Facial diplegia Facial paralysis Kyphoscoliosis Everted lower lip vermilion Pigmentary retinopathy Polydactyly Fetal distress Nonketotic hyperglycinemia Nystagmus Muscular hypotonia Wide nasal bridge Myopia Gait disturbance Respiratory insufficiency Blindness Dystonia Babinski sign Osteopenia Exaggerated startle response Elevated hepatic transaminase Neonatal hypotonia Irritability Retinopathy Neurological speech impairment Abnormality of the cerebral white matter Retinal degeneration Hypodontia Tetraplegia Brain atrophy Peripheral demyelination Hyperglycinemia Hand clenching Restlessness Arthrogryposis multiplex congenita Loss of speech Motor deterioration Dense calvaria Hypertension Talipes equinovarus Ventriculomegaly Retrognathia Joint laxity Apnea Broad forehead Hip dislocation Abnormality of the foot Genu recurvatum Hip dysplasia Long eyelashes Clonus Deep philtrum Trigonocephaly Sparse eyebrow Oral-pharyngeal dysphagia Overlapping toe Myopathic facies Weak cry Hip contracture Asymmetry of the breasts



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Thick eyebrow, related diseases and genetic alterations Microphthalmia and Hematuria, related diseases and genetic alterations Motor delay and Abnormality of the dentition, related diseases and genetic alterations Ptosis and Dystonia, related diseases and genetic alterations Ataxia and Migraine, related diseases and genetic alterations Global developmental delay and Distal sensory impairment, related diseases and genetic alterations

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