Hypertelorism, and Feeding difficulties in infancy

Diseases related with Hypertelorism and Feeding difficulties in infancy

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

Top matches:

The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 4 (CG4, equivalent to CG6 and CGC) have mutations in the PEX6 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Depressed nasal bridge
  • Epicanthus


SOURCES: OMIM MESH MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A

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

Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 7; NS7

Other less relevant matches:

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

Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 Is also known as cms1e, formerly|myasthenic syndrome, congenital, ie, formerly|cms ie, formerly

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11

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

Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 7; CSS7

Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).

CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME Is also known as oculootofacial dysplasia|burn-mckeown syndrome|oofd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME

FG syndrome-4 is an X-linked recessive mental retardation syndrome characterized by congenital hypotonia, constipation, behavioral disturbances, and dysmorphic features (summary by Piluso et al., 2003).The name 'FG' derives from the first description of the disorder (FGS1 ) by Opitz and Kaveggia (1974), who named it 'FG syndrome' according to the Opitz system of using initials of patients' surnames. For a phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).FGS4 is typically associated with missense or hypomorphic mutations in the CASK gene. See also the more severe disorder MICPCH (OMIM ), an allelic disorder caused by complete loss-of-function mutations in the CASK gene (Tarpey et al., 2009).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 4; FGS4

Molybdenum cofactor deficiency (MOCOD) is a rare autosomal recessive metabolic disorder characterized by onset in infancy of poor feeding, intractable seizures, and severe psychomotor retardation. Characteristic biochemical abnormalities include decreased serum uric acid and increased urine sulfite levels due to the combined enzymatic deficiency of xanthine dehydrogenase (XDH ) and sulfite oxidase (SUOX ), both of which use molybdenum as a cofactor. Most affected individuals die in early childhood (summary by Reiss, 2000; Reiss et al., 2011). Genetic Heterogeneity of Molybdenum Cofactor DeficiencySee also MOCOD, complementation group B (MOCODB ), caused by mutation in the MOCS2 gene (OMIM ) on chromosome 5q11; and MOCOD, complementation group C (MOCODC ), caused by mutation in the GPHN gene (OMIM ) on chromosome 14q24.

SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A Is also known as sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase, combined deficiency of|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type a|mocod type a

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE A

Top 5 symptoms//phenotypes associated to Hypertelorism and Feeding difficulties in infancy

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Feeding difficulties in infancy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Short stature Intellectual disability Feeding difficulties Scoliosis Prominent forehead Poor suck Downslanted palpebral fissures Micrognathia Neonatal hypotonia Strabismus Growth delay Global developmental delay Long philtrum Low-set ears

Rare Symptoms - Less than 30% cases

Nystagmus Underdeveloped nasal alae Short nose Abnormal cardiac septum morphology Constipation Narrow palpebral fissure Abnormality of the skeletal system Short neck Atrial septal defect Failure to thrive Long face Neurological speech impairment Hernia Narrow mouth Ptosis Microcephaly Mandibular prognathia Macrocephaly Deeply set eye Sensorineural hearing impairment Polyhydramnios Dolichocephaly Upslanted palpebral fissure Decreased fetal movement High palate Flexion contracture Increased urinary hypoxanthine Abnormality of vision Choanal atresia Renal dysplasia Preauricular skin tag Increased urinary sulfite Decreased urinary sulfate Abnormal palate morphology Secundum atrial septal defect Xanthine nephrolithiasis Xanthinuria Hypomimic face Sulfite oxidase deficiency Renal hypoplasia Eyelid coloboma 2-3 toe syndactyly Mixed hearing impairment External ear malformation Short palpebral fissure Prominent nose Median cleft palate Decreased urinary urate Cleft palate Ventricular septal defect Absent urinary urothione Malar flattening Abnormality of metabolism/homeostasis Inguinal hernia Conductive hearing impairment Cleft lip Abnormality of the eye Protruding ear Bifid uvula Blepharophimosis Coloboma Short philtrum Prominent nasal bridge Anal atresia Cleft upper lip Thin vermilion border Increased urinary thiosulfate Reduced xanthine dehydrogenase activity Hypoplasia of the maxilla Unilateral cleft lip Progressive microcephaly Bilateral choanal atresia Thick vermilion border Ventriculomegaly Hypoplasia of the corpus callosum Hydrocephalus Hypertonia Cerebral atrophy EEG abnormality Axonal loss Severe global developmental delay Opisthotonus Gliosis Hyperreflexia Full cheeks Brain atrophy Peripheral demyelination Neuronal loss in central nervous system Spastic tetraplegia Ectopia lentis Hemiplegia Poor head control Spastic tetraparesis Frontal bossing Frontal upsweep of hair Tetraparesis Midface retrusion Lower eyelid coloboma Bilateral choanal atresia/stenosis Molybdenum cofactor deficiency Increased urinary taurine Abnormal muscle tone Tremor Behavioral abnormality Hypouricemia Intellectual disability, mild Myoclonic spasms Relative macrocephaly Cerebellar hypoplasia Lens luxation Hyperactivity Reduced visual acuity Aggressive behavior Unsteady gait Bilateral sensorineural hearing impairment Small pituitary gland Open mouth Pachygyria Intellectual disability, profound Delayed speech and language development Sagittal craniosynostosis Patent ductus arteriosus Pulmonic stenosis Webbed neck Narrow forehead Hyperpigmentation of the skin Mild short stature Thickened helices Peripheral neuropathy Vomiting Thrombocytopenia Hydronephrosis Dysphagia Smooth philtrum Abdominal distention Intestinal malrotation Aganglionic megacolon Pyloric stenosis Intestinal obstruction Spastic diplegia Multiple lipomas Arthropathy Volvulus Pectus carinatum Cognitive impairment Increased mean platelet volume Areflexia Epicanthus Hepatomegaly Respiratory failure Renal cyst Epiphyseal stippling Epicanthus inversus Generalized neonatal hypotonia Calcific stippling Myopathy Camptodactyly Oval face Small for gestational age Arachnodactyly High, narrow palate Single transverse palmar crease Joint contracture of the hand Respiratory insufficiency due to muscle weakness Akinesia Scaphocephaly Fetal akinesia sequence Overlapping fingers Intestinal pseudo-obstruction Congenital shortened small intestine Broad philtrum Thin upper lip vermilion Malignant hyperthermia Dimple chin Prenatal movement abnormality Absent palmar crease Brachydactyly Clinodactyly Abnormal heart morphology Posteriorly rotated ears Coarse facial features Wide mouth Nasal speech Craniosynostosis Hypermetropia Thick eyebrow Wide nose Otitis media Microdontia Sparse scalp hair Recurrent otitis media Arnold-Chiari malformation Trigonocephaly Ulnar deviation of finger Depressed nasal ridge Increased size of the mandible Frequent falls Muscle weakness Respiratory insufficiency Respiratory distress Apnea Respiratory tract infection Arthrogryposis multiplex congenita Falls Generalized muscle weakness Dental malocclusion Easy fatigability Oligohydramnios Gowers sign Multiple joint contractures Prominent occiput Weak cry Fatigable weakness Cryptorchidism Talipes equinovarus Abnormality of the dentition Joint stiffness Camptodactyly of finger Aldehyde oxidase deficiency


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