Feeding difficulties, and Blepharophimosis

Diseases related with Feeding difficulties and Blepharophimosis

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

Top matches:

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE Is also known as bmrs, mkb type|bmrs, maat-kievit-brunner type|blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type|blepharophimosis-mental retardation syndrome, maat-kievit-brunner type|x-linked ohdo syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE

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

Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures (summary by Mattioli et al., 2017).See also chromosome 3p deletion syndrome (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS; IDDDFP

Other less relevant matches:

Medium match MOGS-CDG

MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).

MOGS-CDG Is also known as glucosidase i deficiency|cdg-iib|cdgiib|cdg iib|carbohydrate deficient glycoprotein syndrome type iib|congenital disorder of glycosylation type 2b|cdg2b|glucosidase 1 deficiency|congenital disorder of glycosylation type iib|cdg syndrome type iib

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MOGS-CDG

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (OMIM ); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH

MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57

Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

8P11.2 DELETION SYNDROME Is also known as del(8)(p11.2)|monosomy 8p11.2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 8P11.2 DELETION SYNDROME

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 Blepharophimosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Epicanthus

Uncommon Symptoms - Between 30% and 50% cases

Short stature Generalized hypotonia Growth delay High palate Seizures Ptosis Short palpebral fissure Hearing impairment Wide nasal bridge Strabismus Abnormal facial shape Narrow mouth Hypertelorism Posteriorly rotated ears Hypoplasia of the corpus callosum Downslanted palpebral fissures Telecanthus Ventricular septal defect Atrial septal defect Scoliosis Prominent nose Low-set ears Depressed nasal bridge Joint hypermobility

Rare Symptoms - Less than 30% cases

Delayed speech and language development Intrauterine growth retardation Talipes equinovarus Edema Gastroesophageal reflux Camptodactyly Downturned corners of mouth Abnormality of the skeletal system Failure to thrive Patent ductus arteriosus Ventriculomegaly Kyphosis Midface retrusion Upslanted palpebral fissure Long face Narrow forehead Microcornea Microphthalmia Muscular hypotonia Myopia Nystagmus Prominent occiput Retrognathia Flexion contracture Optic atrophy Autism Constipation Anteverted nares External ear malformation Bifid uvula Long philtrum Thin vermilion border Bulbous nose Sensorineural hearing impairment Cleft palate Abnormality of metabolism/homeostasis Hernia Conductive hearing impairment Feeding difficulties in infancy Coloboma Short philtrum Prominent nasal bridge Autistic behavior Narrow palpebral fissure Iris coloboma Otitis media Hypertrichosis Recurrent otitis media Hoarse voice Pointed chin Obsessive-compulsive behavior Submucous cleft hard palate Toe walking Spherocytosis Abnormality of the antihelix Hyperventilation Hypogonadism Microtia, first degree Atrioventricular canal defect Long nose Hypogonadotrophic hypogonadism Splenomegaly Tall chin Broad nasal tip Attention deficit hyperactivity disorder Microtia Diarrhea Cerebral visual impairment Broad eyebrow Mitral valve prolapse Neoplasm of the tongue Thyroid dysgenesis Brachydactyly Thyroid agenesis Ectopic thyroid Retinal dystrophy Cognitive impairment Hemolytic anemia Thyroid hypoplasia Abnormal nasolacrimal system morphology Hyperactivity Pes planus Thin upper lip vermilion Anxiety Craniosynostosis Muscle weakness Motor delay Supernumerary ribs Malignant hyperthermia Open mouth Tented upper lip vermilion Congenital contracture Polyhydramnios Gowers sign Myopathic facies Ankle contracture Restrictive deficit on pulmonary function testing Talipes Preauricular pit Multiple skeletal anomalies Hypothyroidism Severe short stature Cerebellar vermis hypoplasia Recurrent respiratory infections Abnormality of the hypothalamus-pituitary axis Clinodactyly of the 5th finger Generalized muscle weakness Abnormality of the foot Fever Brachycephaly Skeletal muscle atrophy Bilateral single transverse palmar creases Respiratory insufficiency Myopathy Pectus excavatum Areflexia Hypoplasia of penis Sloping forehead Azoospermia Arthrogryposis multiplex congenita Kyphoscoliosis Proximal muscle weakness Specific learning disability Facial palsy Joint hyperflexibility Sacral dimple Camptodactyly of finger Anosmia Hyporeflexia Synophrys Vesicoureteral reflux Median cleft palate Abnormal palate morphology Abnormality of vision 2-3 toe syndactyly Mixed hearing impairment Eyelid coloboma Hypomimic face Secundum atrial septal defect Unilateral cleft lip Bilateral choanal atresia Renal dysplasia Lower eyelid coloboma Bilateral choanal atresia/stenosis Agenesis of corpus callosum Abnormality of the pinna Wide mouth Broad forehead Abnormality of the cerebral white matter Flat face Round face Preauricular skin tag Choanal atresia Language impairment Malar flattening Clinodactyly Coarse facial features Carcinoma Smooth philtrum Triangular face Decreased body weight Cafe-au-lait spot Scrotal hypoplasia Short nose Inguinal hernia Renal hypoplasia Mandibular prognathia Cleft lip Abnormality of the eye Protruding ear Abnormal cardiac septum morphology Anal atresia Cleft upper lip Hypoplasia of the maxilla Underdeveloped nasal alae Bilateral ptosis Vertebral fusion Postnatal growth retardation Female infertility Premature ovarian insufficiency Cupped ear Hypoplasia of the uterus Short finger Increased circulating gonadotropin level Congenital ptosis Epicanthus inversus Unilateral ptosis Premature atrial contractions Abnormality of the hair Abnormality of the breast Abnormal lacrimal duct morphology Visual impairment Dysarthria Frontal bossing Behavioral abnormality Hypospadias Abnormal heart morphology Low-set, posteriorly rotated ears Holoprosencephaly Primary amenorrhea Delayed ability to walk Decreased antibody level in blood Abnormal myelination Unilateral cryptorchidism Hepatomegaly Cerebral atrophy Recurrent infections Alopecia Hepatic failure Wide nose Recurrent fractures Long eyelashes Congenital diaphragmatic hernia Thoracic scoliosis Hypoventilation Chronic constipation Overlapping fingers Generalized edema Hand clenching Hypermetropia Infertility Amenorrhea Abnormality of the cheek


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Upslanted palpebral fissure, related diseases and genetic alterations