Failure to thrive, and Downslanted palpebral fissures

Diseases related with Failure to thrive and Downslanted palpebral fissures

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

Top matches:

Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.

INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME Is also known as foxp1 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME

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

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:

Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.

FREEMAN-SHELDON SYNDROME Is also known as craniocarpotarsal dystrophy|craniocarpotarsal dysplasia|distal arthrogryposis type 2a|whistling face syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about FREEMAN-SHELDON SYNDROME

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

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

AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome is a rare, syndromic intellectual disability characterized by hypotonia, developmetal delay, absent or severly delayed speech development, intellectual disability, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported.

AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME Is also known as mrd25|xia-gibbs syndrome|mental retardation, autosomal dominant 25

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AHDC1-RELATED INTELLECTUAL DISABILITY-OBSTRUCTIVE SLEEP APNEA-MILD DYSMORPHISM SYNDROME

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

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

Hereditary orotic aciduria is an extremely rare (less than 20 cases identified worldwide) autosomal recessive disorder characterized by retarded growth, anemia and excessive urinary excretion of orotic acid. It is due to a severe deficiency in the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase (bifunctional enzyme containing two activities: orotate phosphoribosyltransferase and orotidine 5'-monophosphate decarboxylase), coded by a single gene (UMPS) localized to chromosome 3q13.

HEREDITARY OROTIC ACIDURIA Is also known as oroticaciduria|oprt and odc deficiency|uridine monophosphate synthase deficiency|orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency|orotidylic decarboxylase deficiency|orotidylic pyrophosphorylase and orotidylic decarboxylase defici

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY OROTIC ACIDURIA

Top 5 symptoms//phenotypes associated to Failure to thrive and Downslanted palpebral fissures

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Downslanted palpebral fissures. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Long philtrum Upslanted palpebral fissure Smooth philtrum Low-set ears Abnormal facial shape Wide nasal bridge Growth delay Arachnodactyly Thin upper lip vermilion Scoliosis High palate Hypoplasia of the corpus callosum Delayed ability to walk Low-set, posteriorly rotated ears Short nose Microcephaly Behavioral abnormality

Rare Symptoms - Less than 30% cases

Broad forehead Short neck Prominent forehead Poor speech Failure to thrive in infancy Anteverted nares Progressive microcephaly Camptodactyly of finger Postnatal growth retardation Patent ductus arteriosus Feeding difficulties in infancy Absent speech Narrow mouth Talipes equinovarus Inability to walk Bulbous nose Delayed speech and language development Nystagmus Micrognathia Triangular face Short stature Open mouth Feeding difficulties Peripheral neuropathy Intellectual disability, moderate Severe global developmental delay Broad nasal tip Delayed myelination Hearing impairment Abnormal isoelectric focusing of serum transferrin Pectus carinatum Abnormality of the pinna Rhizomelia Muscular hypotonia of the trunk Cerebral cortical atrophy Depressed nasal bridge Babinski sign Butterfly vertebrae Respiratory distress Malar flattening Ataxia Coxa valga Enlarged cisterna magna Retrocerebellar cyst Cortical gyral simplification Sleep apnea Tracheomalacia Obstructive sleep apnea Snoring Esotropia Uplifted earlobe Laryngomalacia Spasticity Vertebral segmentation defect Hyperreflexia Skeletal muscle atrophy Abnormality of the skeletal system Hypertonia Pierre-Robin sequence Apnea Myopia Generalized tonic-clonic seizures Meningitis Atrial septal defect Splenomegaly Immunodeficiency Recurrent respiratory infections Abnormality of the liver Hematuria Neutropenia Aciduria Hip dysplasia Aminoaciduria Anemia Abnormality of the ureter Abnormal toenail morphology Anisocytosis Megaloblastic anemia Poikilocytosis Impaired T cell function Oroticaciduria Folate-unresponsive megaloblastic anemia Orotic acid crystalluria Pyrimidine-responsive megaloblastic anemia Ventricular septal defect Ulnar deviation of the hand Thin vermilion border Long toe Thick vermilion border Brain atrophy Narrow forehead Postnatal microcephaly Leukodystrophy Mutism CNS hypomyelination Overfolded helix Global brain atrophy Pes planus Severe postnatal growth retardation Wide mouth Prominent nasal bridge Everted lower lip vermilion Highly arched eyebrow Tall stature Dental crowding Short chin Trigonocephaly Hypoplasia of the brainstem Disproportionate tall stature Microtia Neonatal hypotonia Osteopenia Onion bulb formation Abnormality of the foot Unsteady gait Distal sensory impairment Wide nose Sensory impairment Broad-based gait Decreased nerve conduction velocity Decreased number of peripheral myelinated nerve fibers Syringomyelia Joint laxity Chronic constipation Demyelinating peripheral neuropathy Vomiting Thrombocytopenia Hydronephrosis Abdominal distention Intestinal malrotation Aganglionic megacolon Abnormal cardiac septum morphology Gait ataxia Intestinal obstruction Attention deficit hyperactivity disorder Macrocephaly Obesity Hyperactivity Autism Retrognathia Anxiety Aggressive behavior Irritability Apraxia Constipation Stereotypy Drooling Delayed gross motor development Relative macrocephaly Language impairment Large forehead Speech apraxia Areflexia Abnormal heart morphology Pyloric stenosis Spastic diplegia Kyphoscoliosis Interphalangeal joint contracture of finger Cleft palate Cataract Microphthalmia Autistic behavior Coloboma Short philtrum Small for gestational age Toe syndactyly Long fingers Prenatal movement abnormality Central apnea Small face Hand clenching Abnormal oral frenulum morphology Abnormality iris morphology Bullet-shaped distal phalanx of the hallux Muscular hypotonia Hypertension Posteriorly rotated ears Absent palmar crease Dimple chin Multiple lipomas Abnormality of the dentition Arthropathy Volvulus Intestinal pseudo-obstruction Increased mean platelet volume Congenital shortened small intestine Increased size of the mandible Cryptorchidism Ptosis Hernia Malignant hyperthermia Polyhydramnios Deeply set eye Joint stiffness Neurological speech impairment Underdeveloped nasal alae Oligohydramnios Depressed nasal ridge Nasal speech Ulnar deviation of finger Reduced orotidine 5-prime phosphate decarboxylase activity


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Renal hypoplasia, related diseases and genetic alterations Brachydactyly and Small hand, related diseases and genetic alterations Peripheral neuropathy and Distal sensory impairment, related diseases and genetic alterations Hypertension and Pancytopenia, related diseases and genetic alterations Generalized hypotonia and Hyporeflexia, related diseases and genetic alterations Short stature and Corneal opacity, related diseases and genetic alterations