Feeding difficulties, and Low-set, posteriorly rotated ears

Diseases related with Feeding difficulties and Low-set, posteriorly rotated ears

In the following list you will find some of the most common rare diseases related to Feeding difficulties and Low-set, posteriorly rotated ears that can help you solving undiagnosed cases.

Top matches:

Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012).For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME 2; ARCND2

IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by Jansen et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD; IDDGIP

Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.

AURICULOCONDYLAR SYNDROME Is also known as question mark ear syndrome|question mark ears syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME

Other less relevant matches:

High match ONDINE SYNDROME

Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.

ONDINE SYNDROME Is also known as congenital central alveolar hypoventilation syndrome|autonomic control, congenital failure of|central congenital hypoventilation syndrome|ondine curse, congenital|cchs|ondine curse

Related symptoms:

  • Seizures
  • Strabismus
  • Muscular hypotonia
  • Pain
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about ONDINE SYNDROME

Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures (summary by Shashi et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SHASHI-PENA SYNDROME; SHAPNS

High match WEAVER SYNDROME

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

WEAVER SYNDROME Is also known as camptodactyly-overgrowth-unusual facies syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about WEAVER SYNDROME

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

Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.

JOUBERT SYNDROME WITH RENAL DEFECT Is also known as js-r

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH RENAL DEFECT

Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.

JOUBERT SYNDROME WITH OCULAR DEFECT Is also known as joubert syndrome with retinopathy|js-o

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULAR DEFECT

The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.

DUPLICATION/INVERSION 15Q11 Is also known as invdup(15)|non-distal tetrasomy 15q|isodicentric 15 chromosome|non-telomeric tetrasomy 15q|idic(15)

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about DUPLICATION/INVERSION 15Q11

Top 5 symptoms//phenotypes associated to Feeding difficulties and Low-set, posteriorly rotated ears

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Feeding difficulties and Low-set, posteriorly rotated ears. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Posteriorly rotated ears

Uncommon Symptoms - Between 30% and 50% cases

Seizures Apnea Downslanted palpebral fissures Autistic behavior Macrocephaly Scoliosis Micrognathia Cleft palate Ptosis Anteverted nares Gastroesophageal reflux Abnormal facial shape Cryptorchidism Epicanthus Highly arched eyebrow Long face Behavioral abnormality Aganglionic megacolon Muscular hypotonia Cerebellar vermis hypoplasia Abnormality of cardiovascular system morphology Snoring Round face

Rare Symptoms - Less than 30% cases

Feeding difficulties in infancy Obstructive sleep apnea Biparietal narrowing Abnormal pattern of respiration Abnormality of the hypothalamus-pituitary axis Cognitive impairment Hand polydactyly Oculomotor apraxia Encephalocele Retinal dystrophy Ventriculomegaly Iris coloboma Retrognathia Polymicrogyria Nystagmus Oral cleft Broad nasal tip Prominent nasal bridge Agenesis of corpus callosum Accelerated skeletal maturation Hydrocephalus Gait disturbance Talipes equinovarus Molar tooth sign on MRI Growth delay Frontal bossing Ventricular septal defect Tremor Ataxia Hypertelorism Question mark ear Full cheeks Hypoplastic superior helix Anxiety Hearing impairment Respiratory distress Atrial septal defect Narrow mouth Constipation Hyperactivity Dental malocclusion Delayed speech and language development Autism Dental crowding Preauricular skin tag Cupped ear Speech articulation difficulties Ankylosis Overfolding of the superior helices Glossoptosis Brachydactyly Fever Pain Short stature Mandibular condyle hypoplasia Mandibular condyle aplasia Broad forehead Cleft at the superior portion of the pinna Sandal gap Blepharophimosis Coloboma Abnormality of the fingernails Hoarse voice Vesicoureteral reflux Tall stature Cerebral visual impairment Broad eyebrow Broad thumb Abnormality of the metaphysis Fine hair Deep philtrum Postnatal growth retardation Redundant skin Temporomandibular joint ankylosis Abnormally low-pitched voice Dysarthria Intrauterine growth retardation Optic atrophy Deep-set nails Motor delay Hypoplasia of the corpus callosum Visual impairment Microphthalmia Hypospadias Thin nail Broad foot Hypoplastic toenails Large hands Abnormal heart morphology Long penis Bulbar palsy Central apnea Stereotypy Clinodactyly of the 5th finger Hypogonadism Brachycephaly Deeply set eye Aggressive behavior Short philtrum Synophrys Joint hypermobility Tetralogy of Fallot Drooling Absent speech Precocious puberty Unilateral renal agenesis 2-3 toe syndactyly Neurodevelopmental delay Gonadal dysgenesis Echolalia Abnormality of brain morphology Severe expressive language delay Self-biting Hernia High palate Upper airway obstruction Neonatal hypotonia Renal insufficiency Abnormality of the eye Joint hyperflexibility Abnormality of eye movement Poor suck Nephropathy Apraxia Delayed gross motor development Hirsutism Nephronophthisis Microcephaly Breathing dysregulation Hypometric saccades Elongated superior cerebellar peduncle Thickened superior cerebellar peduncle Visual loss Abnormal vertebral morphology Dextrocardia Foot polydactyly Retinal coloboma Hypoplasia of penis Hypermetropia Finger syndactyly Short nose Aplasia/Hypoplasia of the external ear Vein of Galen aneurysmal malformation Cleft helix Abnormality of the crus of the helix Postauricular skin tag Hyperlordosis Thin upper lip vermilion Respiratory insufficiency Diarrhea Obesity Hypoplasia of first ribs Depressivity Hyperhidrosis Respiratory tract infection Postural instability Cyanosis Abnormality of the cardiovascular system Abnormal lung morphology Increased body weight Abnormal autonomic nervous system physiology Periauricular skin pits Abnormality of the temporomandibular joint Polyphagia Bifid uvula Short foot Small nail Broad-based gait Obsessive-compulsive behavior Sensorineural hearing impairment Attention deficit hyperactivity disorder Abnormality of the pinna Protruding ear Facial asymmetry Abnormality of the outer ear Anterior open-bite malocclusion Atresia of the external auditory canal Facial cleft External ear malformation Wide mouth Microglossia Stenosis of the external auditory canal Impaired mastication Hamartoma of tongue Difficulty in tongue movements Sleep apnea Neuroblastoma Camptodactyly of finger Hyperinsulinemia Elevated hepatic transaminase Myopia Poor speech Recurrent fractures Nevus Febrile seizures Cafe-au-lait spot Hyperlipidemia Reduced bone mineral density Nevus flammeus Proptosis Deep palmar crease Spasticity Hypertonia Long philtrum Small hand Inguinal hernia Pes cavus Macrotia Joint stiffness Hypoglycemia Osteoporosis Polycythemia Central hypoventilation Hypoventilation Abnormality of the mouth Cardiorespiratory arrest Hypothermia Chronic constipation Abnormality of the endocrine system Chronic lung disease Hypoxemia Abnormal pupil morphology Neoplasm of the central nervous system Cerebral atrophy Abnormality of temperature regulation Triangular mouth Ganglioneuroma Ganglioneuroblastoma Abnormality of the autonomic nervous system Hypercapnia Vomiting Abnormality of the skeletal system Kyphosis Severe receptive language delay


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