Failure to thrive, and Smooth philtrum

Diseases related with Failure to thrive and Smooth philtrum

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

Top matches:

Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME

Kohlschütter-Tönz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia.

AMELOCEREBROHYPOHIDROTIC SYNDROME Is also known as epilepsy and yellow teeth|kohlschutter syndrome|kohlschutter-tonz syndrome|epilepsy, dementia, and amelogenesis imperfecta|epilepsy-dementia-amelogenesis imperfecta syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AMELOCEREBROHYPOHIDROTIC SYNDROME

Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion (Auricchio et al., 1996).Some primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; {142623}) and autosomal recessive visceral neuropathy (OMIM ) (Tanner et al., 1976).

INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED Is also known as intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement|ciipx|ipox|ciip, x-linked|congenital idiopathic intestinal pseudoobstruction|ciip

Related symptoms:

  • Seizures
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM MENDELIAN

More info about INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED

Other less relevant matches:

High match COG1-CDG

COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.

COG1-CDG Is also known as congenital disorder of glycosylation type iig|cdgii/cog1 cerebrocostomandibular-like syndrome|cdg iig|cdg2g|cdg-iig|congenital disorder of glycosylation type 2g|cdgiig|carbohydrate deficient glycoprotein syndrome type iig|cdg syndrome type iig

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about COG1-CDG

PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYCR2-RELATED MICROCEPHALY-PROGRESSIVE LEUKOENCEPHALOPATHY

Related symptoms:

  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Micrognathia
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 2; MGORS2

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

Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by Shamseldin et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2

Top 5 symptoms//phenotypes associated to Failure to thrive and Smooth philtrum

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Thin upper lip vermilion Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Spasticity Downslanted palpebral fissures Long philtrum Generalized hypotonia Anteverted nares Short stature Hypertelorism Absent speech Low-set ears Feeding difficulties Growth delay Micrognathia Joint laxity Cerebral atrophy Hypoplasia of the corpus callosum Muscular hypotonia of the trunk Abnormality of the pinna Delayed speech and language development Thin vermilion border Peripheral neuropathy High palate Triangular face Encephalopathy Epicanthus Osteopenia Prominent forehead Upslanted palpebral fissure Failure to thrive in infancy Wide nose

Rare Symptoms - Less than 30% cases

Wide nasal bridge Talipes equinovarus Short neck Postnatal growth retardation Posteriorly rotated ears Vomiting Nystagmus Narrow mouth Progressive microcephaly Microtia Esotropia Short nose Dystonia Prominent nose Prominent nasal bridge Frontal bossing Scoliosis Bifid uvula Short philtrum Depressed nasal bridge Malar flattening Cryptorchidism Cleft palate Gastroesophageal reflux Intrauterine growth retardation Brain atrophy Bulbous nose Inability to walk Global brain atrophy Abnormal heart morphology Poor speech Constipation Intellectual disability, severe Ataxia Strabismus Mental deterioration Severe global developmental delay Motor delay Intellectual disability, profound Coarse hair Prominent nasal tip Widely spaced teeth Episodic vomiting Wide nasal base Long nose Paranoia Oroticaciduria Respiratory alkalosis Hypoargininemia Protein avoidance Episodic ammonia intoxication Hyperglutaminemia Cerebral edema Low plasma citrulline Gait ataxia Cataract Macrocephaly Optic atrophy Microretrognathia Absence seizures Midface retrusion Partial agenesis of the corpus callosum Episodic ataxia Bruxism Lethargy Long upper lip Edema Headache Abnormality of cardiovascular system morphology Hypospadias Polydactyly Carcinoma Irritability Stroke Confusion Alkalosis Hepatic failure Postaxial polydactyly Coma Gliosis Aciduria Thick lower lip vermilion Prominent metopic ridge Pancreatitis Hyperammonemia Acute hepatic failure Skeletal dysplasia Abnormality of dental color Pes planus Open mouth Punctate cataract Forehead hyperpigmentation Ptosis Brachycephaly High forehead Broad forehead Dyskinesia Small hand Tapered finger Sleep disturbance Choreoathetosis Posterior Y-sutural cataract Severe muscular hypotonia Plagiocephaly Infantile muscular hypotonia Tented upper lip vermilion Cachexia Hip contracture Facial hypotonia Profound global developmental delay Generalized tonic seizures Appendicular hypotonia Posterior wedging of vertebral bodies Sutural cataract Wide mouth Microdontia Sparse hair Wide intermamillary distance Narrow chest Carious teeth Pulmonic stenosis Joint hyperflexibility Abnormality of skin pigmentation Delayed eruption of teeth Hypoplasia of the maxilla Areflexia Large fontanelles High iliac wings Hyperpigmentation of the skin Wide anterior fontanel Hemangioma Prominent supraorbital ridges Brittle hair Premature loss of teeth Capillary hemangioma Decreased skull ossification Delayed closure of the anterior fontanelle Hypoplasia of teeth Narrow iliac wings Short palpebral fissure Neurological speech impairment Round face Pierre-Robin sequence Hypsarrhythmia Epileptic encephalopathy Kyphoscoliosis Focal-onset seizure Intellectual disability, moderate Low-set, posteriorly rotated ears Developmental regression Rhizomelia Coxa valga Vertebral segmentation defect Enlarged cisterna magna Progressive neurologic deterioration Butterfly vertebrae Abnormal isoelectric focusing of serum transferrin Hearing impairment EEG abnormality Hyperreflexia Skeletal muscle atrophy Abnormality of the skeletal system Dementia Cerebellar hypoplasia Hypertonia Cerebellar vermis hypoplasia Hypertension Babinski sign Pyloric stenosis Amelogenesis imperfecta Abnormality of dental enamel Hypohidrosis Thrombocytopenia Patent ductus arteriosus Hydronephrosis Feeding difficulties in infancy Abdominal distention Intestinal malrotation Aganglionic megacolon Intestinal obstruction Muscular hypotonia Spastic diplegia Multiple lipomas Arthropathy Volvulus Intestinal pseudo-obstruction Increased mean platelet volume Congenital shortened small intestine Increased size of the mandible Hypoplasia of dental enamel Broad thumb Hydrocephalus Cerebral cortical atrophy Abnormal cardiac septum morphology Sensory impairment Tracheomalacia Hypoplastic labia majora Labial hypoplasia Patellar aplasia Breast hypoplasia Aplasia/Hypoplasia of the patella Bronchomalacia Birth length less than 3rd percentile Decreased nerve conduction velocity Broad-based gait Distal sensory impairment High pitched voice Unsteady gait Agenesis of corpus callosum Deeply set eye Telecanthus Protruding ear Abnormality of the foot Small for gestational age Yellow-brown discoloration of the teeth Downturned corners of mouth Highly arched eyebrow Slender long bone Emphysema Ventriculomegaly Mutism Pectus carinatum Generalized tonic-clonic seizures Arachnodactyly Demyelinating peripheral neuropathy Chronic constipation Thick vermilion border Syringomyelia Narrow forehead Postnatal microcephaly Leukodystrophy CNS hypomyelination Clitoral hypertrophy Overfolded helix Delayed ability to walk Long toe Onion bulb formation Delayed skeletal maturation Decreased number of peripheral myelinated nerve fibers Camptodactyly Dolichocephaly Joint hypermobility Underdeveloped nasal alae Profound static encephalopathy


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