Failure to thrive, and Sloping forehead

Diseases related with Failure to thrive and Sloping forehead

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

Top matches:

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

Autosomal recessive primary microcephaly-17 (MCPH17) is a severe neurologic disorder characterized by very small head circumference that is apparent at birth and worsens over time (up to -12 SD). Affected individuals have delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. Brain imaging shows a simplified gyral pattern; more severe cases have lissencephaly with hypoplasia of the brainstem and cerebellum (summary by Harding et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE; MCPH17

Other less relevant matches:

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2; ARCS2

Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.

CONGENITAL TUFTING ENTEROPATHY Is also known as intestinal epithelial cell dysplasia|enteropathy, congenital tufting|ied|cte|intestinal epithelial dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL TUFTING ENTEROPATHY

BILATERAL GENERALIZED POLYMICROGYRIA Is also known as pmgys|polymicrogyria with seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL GENERALIZED POLYMICROGYRIA

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

Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

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

Top 5 symptoms//phenotypes associated to Failure to thrive and Sloping forehead

Symptoms // Phenotype % cases
Microcephaly Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Sloping forehead. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Ventriculomegaly Cerebellar hypoplasia Growth delay Muscular hypotonia of the trunk Lissencephaly Hypertonia Sepsis Flexion contracture Feeding difficulties Agenesis of corpus callosum Limb hypertonia Wide nasal bridge Spasticity Intrauterine growth retardation Cryptorchidism Abnormal facial shape Diarrhea Hypertelorism Macrotia Intellectual disability Hyperreflexia Hypoplasia of the corpus callosum

Rare Symptoms - Less than 30% cases

Ataxia Irritability Fever Hepatomegaly Arthrogryposis multiplex congenita Poor speech Bulbous nose Abdominal distention Blepharophimosis Polymicrogyria Absent speech Motor delay Hearing impairment Low-set ears Ventricular septal defect Elevated hepatic transaminase Metabolic acidosis Long nose Failure to thrive in infancy Dilation of lateral ventricles Severe global developmental delay Progressive microcephaly Encephalopathy Small for gestational age Cortical gyral simplification Camptodactyly Severe lactic acidosis Total colonic aganglionosis Decreased skull ossification Organic aciduria Cleft soft palate Enlarged cisterna magna Hypoplasia of the fovea Partial agenesis of the corpus callosum Spina bifida Congenital microcephaly Temperature instability Spinal dysraphism Neoplasm of the thyroid gland Small anterior fontanelle Strabismus Anteverted ears Cataract Delayed speech and language development Downslanted palpebral fissures Central hypoventilation Talipes equinovarus Cardiomyopathy Cerebellar vermis hypoplasia Nausea and vomiting Decreased fetal movement Abnormal protein N-linked glycosylation 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 Total intestinal aganglionosis Fatal liver failure in infancy Muscular hypotonia Aciduria Optic atrophy Myoclonus Osteoporosis Intestinal perforation Acidosis Functional abnormality of the gastrointestinal tract Osteopenia Generalized tonic-clonic seizures Lactic acidosis Limitation of joint mobility Congestive heart failure Atrial septal defect Pneumonia Hernia Myopathy Malnutrition Flat occiput Neoplasm Intestinal obstruction Sensorineural hearing impairment Adducted thumb Pain Ptosis Abnormal autonomic nervous system physiology Increased body weight Low anterior hairline Narrow naris Long eyelashes Aganglionic megacolon Dental malocclusion Thick eyebrow Vomiting Constipation Hypogonadism Abdominal pain Weight loss Prominent nasal bridge Scoliosis Thick hair Inguinal hernia Focal-onset seizure Lethargy Micropenis Enterocolitis Retrognathia Intestinal polyposis Hypertrophic cardiomyopathy Protruding ear Neoplasm of the endocrine system Triangular face Gliosis Convex nasal ridge Hypoventilation Heterochromia iridis Pointed chin Narrow palpebral fissure Cutis laxa Focal impaired awareness seizure Mask-like facies Right bundle branch block Bundle branch block Disproportionate tall stature Entropion Cavum septum pellucidum Wide nasal base Severe failure to thrive Diffuse cerebral atrophy Ichthyosis Abnormal joint morphology Abnormal lung lobation Severe intrauterine growth retardation Severe postnatal growth retardation Polyhydramnios Thick vermilion border Renal agenesis Hypoplasia of the brainstem Decreased head circumference Jaundice Nephropathy Short chin Hip dysplasia Nephrocalcinosis Renal tubular acidosis Right ventricular hypertrophy Conjugated hyperbilirubinemia Cholestatic liver disease Nephrogenic diabetes insipidus Giant cell hepatitis Talipes calcaneovalgus High palate Rocker bottom foot Finger clinodactyly Posteriorly rotated ears Hypoplasia of the pons Respiratory insufficiency Blindness Cerebral cortical atrophy Delayed myelination Spastic tetraplegia Hypsarrhythmia Cerebral visual impairment Large hands Cortical dysplasia Progressive encephalopathy Long foot Interphalangeal joint contracture of finger Profound global developmental delay Exaggerated startle response Abnormality of cardiovascular system morphology Clinodactyly Clinodactyly of the 5th finger Feeding difficulties in infancy Joint stiffness Camptodactyly of finger Abnormality of the foot Oral cleft Prominent nose Midface retrusion Hyperactivity Abnormality of the coagulation cascade Recurrent infections Ectopic kidney Cardiorespiratory arrest Duodenal atresia Abnormal corpus callosum morphology Abnormality of the spinal cord Gray matter heterotopias Short corpus callosum Nystagmus Splenomegaly Cerebral atrophy Thrombocytopenia Mild short stature Recurrent respiratory infections Hepatosplenomegaly Respiratory tract infection Cirrhosis Hepatic failure Chronic diarrhea Hypercholesterolemia Shock Recurrent upper respiratory tract infections Elevated alkaline phosphatase Multiple joint contractures Unilateral renal agenesis Arthritis Vaginal fistula Coloboma Anal atresia Abnormal intestine morphology Celiac disease Underdeveloped supraorbital ridges Choanal stenosis Villous atrophy Trichorrhexis nodosa Intractable diarrhea Secretory diarrhea Dysarthria Spastic tetraparesis Intellectual disability, severe Cerebellar atrophy Hypospadias Severe short stature EEG abnormality Intellectual disability, moderate Craniosynostosis Abnormal pyramidal sign Tetraparesis Pachygyria Heterotopia Abnormality of enteric ganglion morphology


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