Feeding difficulties, and Sloping forehead

Diseases related with Feeding difficulties and Sloping forehead

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

Top matches:

Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Spasticity
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2B; PCH2B

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome is a rare, genetic, neurometabolic disorder characterized by severe, progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia, and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia, and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomeglay, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated.

CONGENITAL MICROCEPHALY-SEVERE ENCEPHALOPATHY-PROGRESSIVE CEREBRAL ATROPHY SYNDROME Is also known as asparagine synthetase deficiency|asns deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MICROCEPHALY-SEVERE ENCEPHALOPATHY-PROGRESSIVE CEREBRAL ATROPHY SYNDROME

Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.

BOWEN-CONRADI SYNDROME Is also known as bowen syndrome, hutterite type|bowen hutterite syndrome, formerly

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BOWEN-CONRADI SYNDROME

Other less relevant matches:

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

Hypomyelinating leukodystrophy-14 is an autosomal recessive neurodevelopmental disorder characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development. Additional features include spasticity and intractable seizures; many patients also have perceptive hearing loss and/or blindness. Most patients require tube feeding or ventilatory support, and most die in the first years of life. Brain imaging shows hypomyelination, small caudate and putamen, and cerebral and cerebellar atrophy (summary by Hamilton et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 14; HLD14

High match COG4-CDG

COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.

COG4-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iij|cdg-iij|cdg syndrome type iij|cdg2j|congenital disorder of glycosylation type iij|congenital disorder of glycosylation type 2j|cdgiij|cdg iij

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COG4-CDG

Amish lethal microcephaly is a very rare syndrome characterized by extreme microcephaly and early death, within the first year.

AMISH LETHAL MICROCEPHALY Is also known as thiamine metabolism dysfunction syndrome 3 (microcephaly type)|amish lethal microcephaly|thmd3

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AMISH LETHAL MICROCEPHALY

Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.

HIRSCHSPRUNG DISEASE Is also known as hscr|aganglionic megacolon|congenital intestinal aganglionosis|hirschsprung disease|megacolon, aganglionic|mgc

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE

Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE Is also known as say-barber-biesecker-young-simpson syndrome|sbbyss|hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, SBBYS TYPE

Top 5 symptoms//phenotypes associated to Feeding difficulties and Sloping forehead

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Cerebellar hypoplasia Ventriculomegaly Hypoplasia of the corpus callosum Progressive microcephaly Muscular hypotonia of the trunk Cerebral atrophy Encephalopathy Growth delay Hypertonia Severe global developmental delay Cerebral visual impairment Respiratory insufficiency Limb hypertonia Hearing impairment Muscular hypotonia Intellectual disability Spasticity

Rare Symptoms - Less than 30% cases

Recurrent respiratory infections Camptodactyly of finger Visual impairment Abnormality of the foot Prominent nose Failure to thrive in infancy Abnormal facial shape Sepsis Long nose Anteverted nares Irritability Prominent nasal bridge Cleft soft palate Cerebellar atrophy Bulbous nose Diarrhea Fever Hepatomegaly Cerebellar vermis hypoplasia Ataxia Severe muscular hypotonia Tented upper lip vermilion Abdominal distention Absent speech Optic atrophy Low-set ears Clinodactyly of the 5th finger Sensorineural hearing impairment Patent ductus arteriosus Myopathy Osteopenia Flexion contracture Hypsarrhythmia Dilation of lateral ventricles Profound global developmental delay Blindness Scoliosis Short stature Dystonia Poor suck Cortical gyral simplification Cryptorchidism Hyperreflexia Myopia Increased susceptibility to fractures Congenital muscular dystrophy Hyperextensible skin Epicanthus Atrophic scars Disproportionate tall stature Spinal dysraphism Temperature instability Difficulty climbing stairs Small anterior fontanelle Soft skin Follicular hyperkeratosis Motor delay Bladder diverticulum Skeletal muscle atrophy Gait disturbance Congenital microcephaly Bruising susceptibility Elevated serum creatine phosphokinase Hyperkeratosis Kyphoscoliosis Umbilical hernia Pes planus Scarring Muscle weakness Muscular dystrophy Joint hypermobility Microcornea Easy fatigability Waddling gait Cardiomyopathy Talipes equinovarus Severe lactic acidosis Hypotelorism Blue sclerae Cutis laxa Hernia Poor head control Inguinal hernia Long eyelashes Keloids Joint hyperflexibility Functional abnormality of the gastrointestinal tract Intestinal perforation Total intestinal aganglionosis Abnormality of enteric ganglion morphology Ventricular septal defect Atrial septal defect Severe short stature Posteriorly rotated ears Hypothyroidism Polyhydramnios Retrognathia Blepharophimosis Bifid uvula Total colonic aganglionosis Specific learning disability Short palpebral fissure Bilateral single transverse palmar creases Prominent occiput Atrioventricular canal defect Submucous cleft hard palate Abnormality of the antihelix Abnormal nasolacrimal system morphology Thyroid hypoplasia Ectopic thyroid Thyroid agenesis Thyroid dysgenesis Neoplasm of the tongue Neoplasm of the thyroid gland Anteverted ears High-frequency sensorineural hearing impairment Thick eyebrow Arterial rupture Abnormal eye morphology Aortic rupture Neoplasm Pain Ptosis Vomiting Constipation Hypogonadism Abdominal pain Weight loss Lethargy Nausea and vomiting Dental malocclusion Central hypoventilation Aganglionic megacolon Low anterior hairline Increased body weight Abnormal autonomic nervous system physiology Adducted thumb Intestinal obstruction Flat occiput Malnutrition Hypoventilation Heterochromia iridis Neoplasm of the endocrine system Intestinal polyposis Enterocolitis Organic aciduria Abnormality of the coagulation cascade Decreased skull ossification Hyporeflexia Finger clinodactyly Short chin Rocker bottom foot Abnormal joint morphology Abnormal lung lobation Severe intrauterine growth retardation Severe postnatal growth retardation Cognitive impairment Delayed speech and language development Peripheral neuropathy Macrocephaly Coarse facial features Oral cleft Deeply set eye Developmental regression Abnormality of the cerebral white matter Poor speech Peripheral axonal neuropathy Inability to walk Thick vermilion border Highly arched eyebrow Macroglossia Brain atrophy Narrow forehead Interphalangeal joint contracture of finger Small for gestational age Infantile muscular hypotonia Delayed myelination Babinski sign Dyskinesia Chorea Epileptic encephalopathy Involuntary movements Clonus Hypoplasia of the brainstem Opisthotonus Extrapyramidal dyskinesia Cerebral cortical atrophy Macrotia Spastic tetraplegia Joint stiffness Large hands Cortical dysplasia Progressive encephalopathy Hypoplasia of the pons Long foot Exaggerated startle response Intrauterine growth retardation Abnormality of cardiovascular system morphology Clinodactyly Camptodactyly Feeding difficulties in infancy Gingival overgrowth Global brain atrophy Enlarged cisterna magna Myoclonus Intermittent diarrhea Generalized neonatal hypotonia Recurrent infection of the gastrointestinal tract Frontotemporal cerebral atrophy Neonatal sepsis Complex febrile seizures Type II transferrin isoform profile Abnormal protein O-linked glycosylation Fatal liver failure in infancy Abnormal protein N-linked glycosylation Agenesis of corpus callosum Osteoporosis Diffuse cerebral atrophy Acidosis Generalized tonic-clonic seizures Lactic acidosis Metabolic acidosis Limitation of joint mobility Aciduria Decreased fetal movement Spina bifida Lissencephaly Partial agenesis of the corpus callosum Hypoplasia of the fovea Thick hair Elevated alkaline phosphatase Abnormality of the periventricular white matter Peripheral edema Dysplastic corpus callosum Exaggerated cupid's bow Reduced brain N-acetyl aspartate level by MRS Small basal ganglia Gastrostomy tube feeding in infancy Extra-axial cerebrospinal fluid accumulation Strabismus Edema Full cheeks Leukodystrophy CNS hypomyelination Nystagmus Recurrent upper respiratory tract infections Splenomegaly Recurrent infections Thrombocytopenia Hepatosplenomegaly Elevated hepatic transaminase Respiratory tract infection Cirrhosis Hepatic failure Chronic diarrhea Hypercholesterolemia Shock Abnormality of the cheek


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