Feeding difficulties, and Wide mouth

Diseases related with Feeding difficulties and Wide mouth

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Feeding difficulties
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 39; MRD39

X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.

X-LINKED RETICULATE PIGMENTARY DISORDER Is also known as familial cutaneous amyloidosis|mental retardation, x-linked, with dystonic movements, ataxia, and seizures|pdr|mental retardation, x-linked, syndromic 1|x-linked cutaneous amyloidosis|xlpdr|mrx36|partington syndrome|partington disease|mrxs1|mental retarda

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED RETICULATE PIGMENTARY DISORDER

Other less relevant matches:

Pitt-Hopkins-like syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, lack of speech with normal, or mildly delayed, motor development, episodic breathing abnormalities, early-onset seizures and facial dysmorphism which only includes a wide mouth. Abnormal sleep-wake cycles, autistic behavior and stereotypic movements are commonly associated.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about PITT-HOPKINS-LIKE SYNDROME

Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME

IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 4; CSS4 Is also known as mrd16|mental retardation, autosomal dominant 16

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 4; CSS4

Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 5; CSS5

Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 7; CSS7

Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about BAINBRIDGE-ROPERS SYNDROME; BRPS

Top 5 symptoms//phenotypes associated to Feeding difficulties and Wide mouth

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Anteverted nares Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Feeding difficulties and Wide mouth. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Delayed speech and language development Depressed nasal bridge Strabismus Microcephaly Constipation Hypertelorism Sparse scalp hair Short stature Thin upper lip vermilion Coarse facial features Thick eyebrow Gastroesophageal reflux Growth delay Scoliosis Autistic behavior Wide nose

Rare Symptoms - Less than 30% cases

Trigonocephaly Myopia Bulbous nose Brachydactyly Low-set ears Failure to thrive Posteriorly rotated ears Wide nasal bridge Hypermetropia Small nail Hearing impairment Intrauterine growth retardation Arachnodactyly Dandy-Walker malformation Long eyelashes Abnormal corpus callosum morphology Thick nasal alae Hypoplasia of the corpus callosum Absent speech Abnormal heart morphology Prominent forehead Downslanted palpebral fissures Broad-based gait Atrial septal defect Autism Epileptic encephalopathy Prominent nasal bridge Deeply set eye Encephalopathy Myoclonus Short distal phalanx of finger Clinodactyly Abnormality of the skeletal system Neonatal hypotonia Dystrophic toenail Slender finger Hypoplastic toenails Sandal gap Low anterior hairline Thick lower lip vermilion Cerebellar hypoplasia Aggressive behavior Short philtrum Feeding difficulties in infancy Cerebral atrophy Recurrent infections Ptosis Aplasia/Hypoplasia of the distal phalanges of the hand Febrile seizures Thin eyebrow Hypertrichosis Spasticity Brachycephaly Craniosynostosis Cognitive impairment Severe global developmental delay Severe postnatal growth retardation Delayed ability to walk Disproportionate tall stature Hypoplasia of the brainstem Short chin Dental crowding Tall stature Open mouth Broad nasal tip Highly arched eyebrow Everted lower lip vermilion Inability to walk Postnatal growth retardation Abnormal cardiac septum morphology Pes planus Upslanted palpebral fissure Short nose High palate Small pituitary gland Sagittal craniosynostosis Broad philtrum Obesity Arnold-Chiari malformation Recurrent otitis media Microdontia Otitis media Neurological speech impairment Macroglossia Hirsutism Developmental regression Cogwheel rigidity Neuronal loss in central nervous system Increased serum lactate Gliosis Focal dystonia Lactic acidosis Facial asymmetry Dilated cardiomyopathy Hypertrophic cardiomyopathy Acidosis Midface retrusion Hypertonia Cardiomyopathy Hydranencephaly Hyperalaninemia Cataract Micrognathia Stuttering Grasp reflex Hyperventilation Protruding tongue Atonic seizures Self-injurious behavior Drooling Stereotypy Intellectual disability, severe Unsteady gait Pulmonic stenosis Left ventricular noncompaction Limb dystonia Flexion contracture Broad forehead Dysarthria Delayed skeletal maturation Abnormality of cardiovascular system morphology Tremor Visual impairment Muscular hypotonia Dystonia Obsessive-compulsive behavior EEG abnormality Short foot Small hand Rigidity Attention deficit hyperactivity disorder Pain Hyperlordosis Low-set, posteriorly rotated ears Anxiety Intellectual disability, moderate Hyperactivity Triangular face Behavioral abnormality Vomiting Short palpebral fissure Fever Lower limb spasticity Lissencephaly Infantile spasms Ulnar deviation of the hand


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