Feeding difficulties, and Arachnodactyly

Diseases related with Feeding difficulties and Arachnodactyly

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

Top matches:

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

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 4; GAMOS4

Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT

Other less relevant matches:

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 2, X-LINKED; GAMOS2

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

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

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

IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by Santiago-Sim et al., 2017).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET SEIZURES-DISTAL LIMB ANOMALIES-FACIAL DYSMORPHISM-GLOBAL DEVELOPMENTAL DELAY SYNDROME

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

The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

Top 5 symptoms//phenotypes associated to Feeding difficulties and Arachnodactyly

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Abnormal facial shape Micrognathia Flexion contracture Hypertelorism Wide nasal bridge Intrauterine growth retardation Low-set ears Thin upper lip vermilion High, narrow palate Downslanted palpebral fissures Inability to walk Long nose Motor delay Hypoplasia of the corpus callosum Absent speech Cerebellar hypoplasia Failure to thrive Wide mouth Prominent nasal bridge Short philtrum Brachycephaly Small for gestational age Long face

Rare Symptoms - Less than 30% cases

Dental crowding Dysmetria Highly arched eyebrow Slender finger Sandal gap Open mouth Narrow nasal bridge Delayed ability to walk Long eyelashes Short chin Nystagmus Myopia Prominent forehead Muscular hypotonia Protruding ear Anteverted nares Disproportionate tall stature Atrial septal defect Narrow face Strabismus Coarse facial features Abnormal heart morphology Aortic root aneurysm Upslanted palpebral fissure Delayed speech and language development Nephrotic syndrome Pes planus Polymicrogyria Stage 5 chronic kidney disease Proteinuria Macrotia Cerebral atrophy Visual impairment Spasticity Focal segmental glomerulosclerosis Flat occiput Broad thumb Joint contracture of the hand Dolichocephaly Camptodactyly Autism Areflexia Retrognathia Glomerulosclerosis Tapered finger Cognitive impairment Ascending tubular aorta aneurysm Abnormality of the dentition Talipes equinovarus Respiratory distress Precocious puberty Spastic tetraplegia Tetraplegia Lipodystrophy Telecanthus Broad forehead Microdontia Clitoral hypertrophy Hyperinsulinemia Hyperglycemia Abnormal cardiac septum morphology Hypoglycemia Dyspnea Absent eyebrow Mandibular prognathia Sacral dimple Blepharophimosis Acanthosis nigricans Epicanthus Neoplasm Long palpebral fissure Specific learning disability Sepsis Short palpebral fissure Hypertrichosis Insulin resistance Abdominal distention Epidermal acanthosis Microcornea Preauricular skin tag Hirsutism Thin vermilion border Optic atrophy Dry skin Smooth philtrum Overlapping toe Respiratory failure Muscle flaccidity Ovarian neoplasm Schizophrenia Joint laxity Camptodactyly of finger Attention deficit hyperactivity disorder Neurological speech impairment Joint hyperflexibility Hypoplasia of the maxilla Psychosis Anorexia Hallucinations Aplasia/Hypoplasia of the corpus callosum Abnormality of the genitourinary system Deep philtrum High forehead Nasal speech Abnormality of the voice Aortic aneurysm Obsessive-compulsive behavior Emotional lability Macroorchidism Abnormality of the rib cage Impaired social interactions Velopharyngeal insufficiency Low frustration tolerance Oppositional defiant disorder Cat cry Aggressive behavior Hyperactivity Protuberant abdomen Diabetic ketoacidosis Insulin-resistant diabetes mellitus Ketoacidosis Long foot Abnormality of the optic nerve Thick nail Fasting hypoglycemia Long penis Advanced eruption of teeth Thin eyebrow Choroideremia Abnormal lip morphology Chorioretinal dystrophy Agenesis of corpus callosum Postprandial hyperglycemia Abnormality of upper lip Onychauxis Cleft palate Brachydactyly Macrocephaly Frontal bossing Ventricular septal defect Behavioral abnormality Intellectual disability, mild Dilatation Pectus excavatum Autistic behavior Joint hypermobility Abnormality of the pinna Impaired tactile sensation Hip dysplasia Broad-based gait Poor head control Impaired vibratory sensation Sensory axonal neuropathy Myopathic facies Distal arthrogryposis Impaired proprioception Sensory ataxia Cerebellar atrophy Peripheral axonal neuropathy Esotropia Narrow forehead Minimal change glomerulonephritis Ptosis Depressed nasal bridge Recurrent infections Thick eyebrow Short distal phalanx of finger Wide nose Dandy-Walker malformation Sensory neuropathy Unsteady gait Thick lower lip vermilion Overlapping fingers Myopathy Polyhydramnios Neonatal hypotonia Single transverse palmar crease Decreased fetal movement Respiratory insufficiency due to muscle weakness Poor suck Akinesia Scaphocephaly Fetal akinesia sequence Oval face Abnormality of the foot Diffuse mesangial sclerosis Ataxia Muscle weakness Peripheral neuropathy Dysarthria Abnormality of the skeletal system Respiratory insufficiency Difficulty walking Distal muscle weakness Arthrogryposis multiplex congenita Small nail Sparse scalp hair Long philtrum Enlarged thorax Heart murmur Neonatal respiratory distress Tricuspid regurgitation Emphysema Long fingers Lipoatrophy Megalocornea Hypoxemia Abnormal echocardiogram Long toe Tricuspid valve prolapse Adducted thumb Iridodonesis Abnormal cardiac ventricle morphology Talipes calcaneovarus Crumpled ear Increased arm span Hearing impairment Cryptorchidism Ventriculomegaly Short neck Intellectual disability, severe Ectopia lentis Cutis laxa Low anterior hairline Tall stature Hypoplastic toenails Dystrophic toenail Abnormal corpus callosum morphology Thick nasal alae Short nose Postnatal growth retardation Severe global developmental delay Bulbous nose Everted lower lip vermilion Broad nasal tip Trigonocephaly Mitral regurgitation Hypoplasia of the brainstem Severe postnatal growth retardation Ulnar deviation of the hand Hyporeflexia Deeply set eye Pectus carinatum Decreased testicular size Mitral valve prolapse High myopia Blue sclerae Abnormally folded helix


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