Feeding difficulties, and Highly arched eyebrow

Diseases related with Feeding difficulties and Highly arched eyebrow

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


Top matches:

High match NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA


NEDMAGA is a neurodevelopmental disorder characterized by infantile-onset global developmental delay with severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy (summary by Palmer et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA

High match ALAZAMI-YUAN SYNDROME; ALYUS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALAZAMI-YUAN SYNDROME; ALYUS

High match BAINBRIDGE-ROPERS SYNDROME; BRPS


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

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Other less relevant matches:

High match TBCK-RELATED INTELLECTUAL DISABILITY SYNDROME


TBCK-related intellectual disability syndrome is a rare, genetic, syndromic intellectual disability characterized by usually profound intellectual disability with absent speech, severe infantile hypotonia with decreased or absent reflexes, markedly slow motor development (with no progress beyond the ability to sit independently), early-onset epilepsy, strabismus and post-natal onset of progressive brain atrophy (incl. loss of brain volume, ex vacuo ventriculomegaly, dysgenesis of corpus callosum, white matter abnormalities ranging from non-specific changes to leukodystrophy). Swallowing difficulties, respiratory insufficiency, osteoporosis and variable craniofacial dysmorphisms (incl. plagio/brachicephaly, bitemporal narrowing, high-arched eyebrows, high nasal bridge, anteverted nares, high palate, tented upper lip) may constitute additional clinical features.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about TBCK-RELATED INTELLECTUAL DISABILITY SYNDROME

High match INTELLECTUAL DISABILITY, BIRK-BAREL TYPE


Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

INTELLECTUAL DISABILITY, BIRK-BAREL TYPE Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome|birk-barel mental retardation dysmorphism syndrome|mental retardation with hypotonia and facial dysmorphism

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22


Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

High match COFFIN-SIRIS SYNDROME 2; CSS2


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 ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).The chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.

COFFIN-SIRIS SYNDROME 2; CSS2 Is also known as mrd14|mental retardation, autosomal dominant 14

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 2; CSS2

High match SHASHI-PENA SYNDROME; SHAPNS


Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures (summary by Shashi et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SHASHI-PENA SYNDROME; SHAPNS

High match OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS


Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients (Okur et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

Top 5 symptoms//phenotypes associated to Feeding difficulties and Highly arched eyebrow

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Abnormal facial shape Very Common - Between 80% and 100% cases
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Other less frequent symptoms

Patients with Feeding difficulties and Highly arched eyebrow. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development

Common Symptoms - More than 50% cases


Poor speech

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Anteverted nares Absent speech Hypertelorism High palate Macrocephaly Failure to thrive Prominent nasal bridge Hypoplasia of the corpus callosum Thick eyebrow Thin upper lip vermilion Epicanthus Scoliosis Behavioral abnormality Broad nasal tip Visual impairment Short stature Ptosis Micrognathia Feeding difficulties in infancy Ventriculomegaly Abnormality of the pinna Hyperactivity Constipation Open mouth Depressed nasal bridge Short nose Prominent forehead

Rare Symptoms - Less than 30% cases


Cerebral atrophy Inability to walk Cerebellar vermis hypoplasia Coarse facial features Deeply set eye Bulbous nose Thick vermilion border Macroglossia Brachydactyly Narrow forehead Cerebellar hypoplasia Widely spaced teeth Tented upper lip vermilion Wide nasal bridge Peripheral neuropathy Muscular hypotonia Cleft palate Dysphagia Intellectual disability, severe Retrognathia Hypoglycemia Short philtrum Agenesis of corpus callosum Spasticity Motor delay Recurrent infections Wide nose Hyporeflexia Wide mouth Long philtrum Synophrys Low anterior hairline Cryptorchidism Stereotypy Strabismus Long eyelashes Dental crowding Wide intermamillary distance Neonatal hypotonia Downturned corners of mouth Everted lower lip vermilion Growth delay Bifid uvula Thin vermilion border Joint hypermobility Round face Short palpebral fissure Reduced bone mineral density Absence seizures IgA deficiency Microretrognathia Long nose Smooth philtrum Small for gestational age Neurological speech impairment Cerebellar dysplasia Long palpebral fissure Ataxia Protruding tongue Low hanging columella Enlarged cisterna magna Dilation of lateral ventricles Dilated fourth ventricle Dysgenesis of the cerebellar vermis Attention deficit hyperactivity disorder Deep palmar crease Nevus flammeus Dystonia Hyperinsulinemia Telecanthus Muscular hypotonia of the trunk Joint laxity Protruding ear Partial agenesis of the corpus callosum Pachygyria Prominent metopic ridge Atrial septal defect Prominent interphalangeal joints Absent fifth toenail Absent fifth fingernail Long face Autistic behavior Low-set, posteriorly rotated ears Abnormality of the skeletal system Eczema Shortening of all distal phalanges of the fingers Kyphosis Posteriorly rotated ears Osteoporosis Decreased antibody level in blood Atonic seizures Proptosis Elevated hepatic transaminase Aplasia/Hypoplasia of the distal phalanges of the hand Abnormal corpus callosum morphology Bruxism Abnormality of cardiovascular system morphology Cortical gyral simplification Long upper lip Hyperlipidemia Accelerated skeletal maturation Cafe-au-lait spot Febrile seizures Nevus Delayed skeletal maturation Hypertrichosis High forehead Sparse hair Small nail Clinodactyly Recurrent fractures Thick lower lip vermilion Sparse scalp hair Prominent nasal tip Dysplastic corpus callosum Polymicrogyria Pes planus Broad hallux Short columella Unilateral cryptorchidism Curly eyelashes Myopia Downslanted palpebral fissures Upslanted palpebral fissure Postnatal growth retardation Prominent nose Severe global developmental delay Arachnodactyly Tall stature Short chin Trigonocephaly Hypoplasia of the brainstem Disproportionate tall stature Underdeveloped nasal alae Single transverse palmar crease Severe postnatal growth retardation Broad-based gait Pain Hypertonia Cerebral cortical atrophy Autism Gastroesophageal reflux Unsteady gait Esotropia Progressive microcephaly Hirsutism Prominent supraorbital ridges Progressive spasticity Tics Broad columella Happy demeanor Narrow mouth Narrow chest Delayed ability to walk Ulnar deviation of the hand Hypospadias Dysphonia Flexion contracture Skeletal muscle atrophy Depressivity Babinski sign Dolichocephaly High, narrow palate Sacral dimple Spinal muscular atrophy Extra-axial cerebrospinal fluid accumulation Oral-pharyngeal dysphagia Neonatal hypoglycemia Broad eyebrow Tented philtrum Submucous cleft soft palate Hearing impairment Sensorineural hearing impairment Muscle weakness Gastrostomy tube feeding in infancy Cognitive impairment Gingival overgrowth Respiratory insufficiency Encephalopathy Developmental regression Abnormality of the cerebral white matter Peripheral axonal neuropathy Brain atrophy Sloping forehead Cerebral visual impairment Small basal ganglia Severe muscular hypotonia Infantile muscular hypotonia Global brain atrophy Abnormality of the periventricular white matter Profound global developmental delay Exaggerated cupid's bow Reduced brain N-acetyl aspartate level by MRS IgG deficiency



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