Feeding difficulties, and Smooth philtrum

Diseases related with Feeding difficulties and Smooth philtrum

In the following list you will find some of the most common rare diseases related to Feeding difficulties and Smooth philtrum 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

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

HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., {157900}), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by Vogel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see {601471}.

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3

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

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65; MRT65

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 2; MGORS2

Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.

ADENYLOSUCCINATE LYASE DEFICIENCY Is also known as adenylosuccinate lyase deficiency|adenylosuccinase deficiency|adsl deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ADENYLOSUCCINATE LYASE DEFICIENCY

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

Hermansky-Pudlak syndrome-10 is an autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures (summary by Ammann et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 10; HPS10

GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES; GDACCF

Top 5 symptoms//phenotypes associated to Feeding difficulties and Smooth philtrum

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Seizures Failure to thrive Growth delay Delayed speech and language development Downslanted palpebral fissures Strabismus Micrognathia Long philtrum Thin upper lip vermilion Hypoplasia of the corpus callosum Short nose Prominent metopic ridge Anteverted nares Cryptorchidism Epicanthus Hypertelorism Ptosis Depressed nasal bridge Triangular face Thin vermilion border Abnormality of the pinna

Rare Symptoms - Less than 30% cases

Delayed ability to walk Dystonia Absent speech Cerebral atrophy Nystagmus Hypermetropia Downturned corners of mouth Retrognathia Short stature Hydronephrosis Patent ductus arteriosus Telecanthus Flat occiput Short palpebral fissure Camptodactyly Dolichocephaly Muscular hypotonia of the trunk Agenesis of corpus callosum Talipes equinovarus Low hanging columella Wide mouth Coarse facial features Wide nasal bridge Joint hypermobility Bulbous nose Wide nose Narrow mouth High palate Peripheral neuropathy Poor speech Hearing impairment Gait ataxia Abnormal heart morphology Upslanted palpebral fissure Prominent forehead Motor delay Intellectual disability, severe Broad columella Short philtrum Deeply set eye Gastrointestinal dysmotility Deep philtrum Mitral stenosis Protruding ear Oval face Hypoplastic left heart Inverted nipples Ventriculomegaly Spasticity Opisthotonus Apraxia Hypsarrhythmia Postnatal microcephaly Stereotypy CNS hypomyelination Impulsivity Narrow philtrum Brisk reflexes Poor eye contact Cleft palate Cerebellar vermis atrophy Epileptic spasms Self-mutilation Short attention span Cerebral hypomyelination Happy demeanor Inappropriate laughter Hypointensity of cerebral white matter on MRI Small for gestational age Narrow palate Bifid uvula Neurological speech impairment Hypotelorism EEG abnormality Abnormality of the nervous system Generalized tonic-clonic seizures Neutropenia Growth hormone deficiency Generalized myoclonic seizures Abnormal bleeding Delayed myelination Renal cyst Mitral valve prolapse Talipes Albinism Interstitial pulmonary abnormality Neonatal hypotonia Pes planus Respiratory insufficiency Arachnoid cyst Pierre-Robin sequence Ocular albinism Generalized-onset seizure Macrotia Highly arched eyebrow Bruxism Frontal bossing Round face Wide intermamillary distance Absence seizures Microretrognathia Widely spaced teeth Long nose Partial agenesis of the corpus callosum Prominent nasal tip Coarctation of aorta Long upper lip Hepatomegaly Splenomegaly Immunodeficiency Recurrent infections Pointed chin Renal dysplasia Pneumonia Recurrent respiratory infections Hepatosplenomegaly Clitoral hypertrophy Inability to walk High hypermetropia Sensorineural hearing impairment Dysarthria Dysphagia Midface retrusion Posteriorly rotated ears Facial palsy Paralysis Esotropia Facial diplegia Chronic constipation Facial paralysis High-frequency hearing impairment Esophoria Accommodative esotropia Vomiting Thrombocytopenia Feeding difficulties in infancy Abdominal distention Intestinal malrotation Demyelinating peripheral neuropathy Syringomyelia Pyloric stenosis Constipation Clinodactyly Carcinoma Blepharophimosis Prominent nose Decreased body weight Cafe-au-lait spot Scrotal hypoplasia Areflexia Joint laxity Onion bulb formation Abnormal cardiac septum morphology Abnormality of the foot Unsteady gait Distal sensory impairment Sensory impairment Broad-based gait Decreased nerve conduction velocity Failure to thrive in infancy Decreased number of peripheral myelinated nerve fibers Aganglionic megacolon Intestinal obstruction Severe global developmental delay Birth length less than 3rd percentile Slender long bone Tracheomalacia Hypoplastic labia majora Labial hypoplasia Patellar aplasia Breast hypoplasia Aplasia/Hypoplasia of the patella Bronchomalacia Skeletal muscle atrophy Emphysema Cerebellar atrophy Hypertonia Encephalopathy Myoclonus Brachycephaly Hyperactivity Autism Aggressive behavior Developmental regression High pitched voice Underdeveloped nasal alae Spastic diplegia Hernia Multiple lipomas Arthropathy Volvulus Intestinal pseudo-obstruction Increased mean platelet volume Congenital shortened small intestine Increased size of the mandible Myopia Atrial septal defect Hypospadias Microtia Inguinal hernia Prominent nasal bridge Astigmatism Supernumerary nipple Square face Intrauterine growth retardation Delayed skeletal maturation Gastroesophageal reflux Postnatal growth retardation Infra-orbital crease


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