Feeding difficulties, and High, narrow palate

Diseases related with Feeding difficulties and High, narrow palate

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


Top matches:

High match MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with acetylcholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Ptosis
  • High palate
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C

High match CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE


Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • High palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE

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

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Other less relevant matches:

High match NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL

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 MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME


Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.

MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME Is also known as mrxsml|mental retardation, x-linked, syndromic, mircsof-langouet type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-LEFT VENTRICULAR NON COMPACTION SYNDROME

High match OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE


Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE Is also known as mendenhall syndrome|rabson-mendenhall syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE

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

High match CARDIOSPONDYLOCARPOFACIAL SYNDROME


Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.

CARDIOSPONDYLOCARPOFACIAL SYNDROME Is also known as forney-robinson-pascoe syndrome|mitral regurgitation-deafness-skeletal anomalies syndrome|forney syndrome|mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CARDIOSPONDYLOCARPOFACIAL SYNDROME

High match INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME


Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

Top 5 symptoms//phenotypes associated to Feeding difficulties and High, narrow palate

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Feeding difficulties and High, narrow palate. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Small for gestational age Wide mouth Seizures Short stature Strabismus Failure to thrive Thick lower lip vermilion Telecanthus Deeply set eye Anteverted nares Scoliosis Upslanted palpebral fissure Thick eyebrow Poor speech Delayed skeletal maturation Short philtrum Hypoglycemia Severe short stature Micrognathia Postnatal growth retardation Cryptorchidism Microcephaly Motor delay Flexion contracture Dolichocephaly Arachnodactyly Dysphagia Hypertelorism Neonatal hypotonia

Rare Symptoms - Less than 30% cases


Blepharophimosis Autistic behavior Coarse facial features Gastroesophageal reflux Smooth philtrum Decreased testicular size Brachycephaly Abnormality of the dentition Ptosis Thin vermilion border Low-set ears Wide nasal bridge Downslanted palpebral fissures Macrotia Muscle weakness Hirsutism Mitral valve prolapse Long face Aggressive behavior Joint laxity Brachydactyly Long philtrum Abnormal cardiac septum morphology Short palm Myopia Full cheeks Absent speech Thick vermilion border Thick nasal alae Cone-shaped epiphysis Widely spaced teeth Severe failure to thrive Lipoatrophy Cutis laxa Mitral regurgitation Autism Abdominal distention Acanthosis nigricans Feeding difficulties in infancy Postprandial hyperglycemia Intellectual disability, severe Skeletal muscle atrophy Absent eyebrow Highly arched eyebrow Muscular hypotonia Broad nasal tip Hyperglycemia Long foot Clitoral hypertrophy Intrauterine growth retardation Retrognathia Hyperinsulinemia Precocious puberty Poor suck Short palpebral fissure Macrocephaly Long penis Epicanthus Depressed nasal bridge Epidermal acanthosis Fasting hypoglycemia Nystagmus Hypertrichosis Insulin resistance Hernia Specific learning disability Adipose tissue loss Abnormality of the abdominal wall Ovarian cyst Onychauxis Small face Abnormality of upper lip Muscle flaccidity Pancreatic islet-cell hyperplasia Elfin facies Female pseudohermaphroditism Absence of subcutaneous fat Diabetic ketoacidosis Chorioretinal dystrophy Concave nasal ridge Cachexia Cognitive impairment Gingival overgrowth Recurrent respiratory infections Inguinal hernia Hyperkeratosis Proptosis Umbilical hernia Recurrent infections Nail dysplasia Type II diabetes mellitus Cholestasis Hepatic fibrosis Thickened nuchal skin fold Gynecomastia Generalized hirsutism Fatigue Large hands Glucose intolerance Decreased muscle mass Hypermelanotic macule Reduced subcutaneous adipose tissue Severe intrauterine growth retardation Hearing abnormality Low-set, posteriorly rotated ears Abnormal form of the vertebral bodies Prominent nipples Drooling Dysphasia Aphasia Overfolded helix Short metatarsal Abnormality of the metacarpal bones Mutism Sandal gap Protruding tongue Accelerated skeletal maturation Narrow palpebral fissure Joint dislocation Absence seizures Low anterior hairline Abnormality of epiphysis morphology Short phalanx of finger Narrow nasal bridge Epileptic spasms Broad-based gait Broad distal phalanx of finger Unilateral narrow palpebral fissure Prominent interphalangeal joints Prominent eyelashes Curly eyelashes Clubbing of toes Excessive wrinkled skin Eclabion Abnormality of finger Wide nasal base Broad columella Enlarged joints Broad philtrum Abnormality of the testis Abnormal hair pattern Echolalia Long eyelashes Sparse scalp hair Asymmetry of the breasts Choroideremia Carpal synostosis Synostosis of carpal bones Freckling Tarsal synostosis Congenital sensorineural hearing impairment Horseshoe kidney Recurrent otitis media Rib fusion Vesicoureteral reflux Short foot Abnormality of the eye Conductive hearing impairment Posteriorly rotated ears Delayed speech and language development Hearing impairment Misalignment of teeth Fused cervical vertebrae Status epilepticus Hypotrichosis Eczema Wide intermamillary distance Short metacarpal Triangular face Everted lower lip vermilion Wide nose Synophrys Sparse hair Delayed ossification of carpal bones Osteoporosis Alopecia Obesity Abnormality of cardiovascular system morphology Failure of eruption of permanent teeth Synostosis of carpals/tarsals Pseudoepiphyses Abnormal lip morphology Fetal akinesia sequence Thin eyebrow High myopia Myopathy Abnormality of the cerebral white matter Bulbous nose Dyskinesia Cerebral visual impairment Sparse eyebrow Self-injurious behavior Delayed ability to walk Nasogastric tube feeding Recurrent hand flapping Hyporeflexia Pectus carinatum Joint hypermobility Blue sclerae Polyhydramnios Adducted thumb Ectopia lentis Heart murmur Neonatal respiratory distress Tricuspid regurgitation Emphysema Long fingers Aortic root aneurysm Megalocornea Hypoxemia Abnormal echocardiogram Long toe Enlarged thorax Areflexia EEG abnormality Tricuspid valve prolapse Tented upper lip vermilion Oval face Scaphocephaly Akinesia Respiratory insufficiency due to muscle weakness Joint contracture of the hand Cleft palate Depressivity Babinski sign Hyperactivity Decreased fetal movement Single transverse palmar crease Narrow forehead Sacral dimple Dysphonia Osteopenia Spinal muscular atrophy Oral-pharyngeal dysphagia Neonatal hypoglycemia Broad eyebrow Tented philtrum Submucous cleft soft palate Camptodactyly Visual impairment Ventriculomegaly Dystonia Cerebral atrophy Midface retrusion Encephalopathy Prominent forehead Ascending tubular aorta aneurysm Iridodonesis Advanced eruption of teeth Dry skin Slender build Left ventricular noncompaction Speech apraxia Perseveration Increased head circumference Deviated nasal septum Respiratory insufficiency Neoplasm Optic atrophy Respiratory distress Respiratory failure Mandibular prognathia Dyspnea Overlapping fingers Mild global developmental delay Microcornea Sepsis Microdontia Preauricular skin tag Narrow face Lipodystrophy Flat occiput Ovarian neoplasm Protuberant abdomen Insulin-resistant diabetes mellitus Ketoacidosis Abnormality of the optic nerve Thick nail Right ventricular hypertrophy Ankylosis Abnormal cardiac ventricle morphology Facial palsy Talipes calcaneovarus Crumpled ear Increased arm span Ataxia Limb muscle weakness Tremor Frontal bossing Ventricular septal defect Hypoplasia of the corpus callosum Kyphosis Malar flattening Patent ductus arteriosus Cerebellar hypoplasia Narrow mouth Thickened calvaria Kyphoscoliosis Pes planus Muscular hypotonia of the trunk Delayed puberty Abnormal cerebellum morphology Prominent nose Intention tremor Open mouth Dental crowding Clonus Relative macrocephaly Nasal speech Patent foramen ovale Hallux valgus Prominent proximal interphalangeal joints



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