Macrocephaly, and Feeding difficulties

Diseases related with Macrocephaly and Feeding difficulties

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

Top matches:

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME Is also known as distal arthrogryposis type 7|hecht-beals syndrome|mouth, inability to open completely, and short finger-flexor tendons|trismus-pseudocamptodactyly syndrome|hecht syndrome|dutch-kentucky syndrome

Related symptoms:

  • Short stature
  • Micrognathia
  • Abnormal facial shape
  • Ptosis
  • Feeding difficulties


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME

Other less relevant matches:

Combined D-2- and L-2-hydroxyglutaric aciduria (D-2-HG and L-2-HG) is an autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts (summary by Muntau et al., 2000).See also isolated L-2-hydroxyglutaric aciduria (OMIM ) and isolated D-2-hydroxyglutaric aciduria (see {600721}).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy (summary by Nurnberg et al., 1997).The delineation of separate autosomal dominant and autosomal recessive (CMDR ) forms of CMD by Gorlin et al. (1969) was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, while the recessive form is rare, severe, and possibly heterogeneous.

CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD Is also known as cmdj|cmd|craniometaphyseal dysplasia, jackson type

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Feeding difficulties
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD

Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

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

NEDMAGA is a neurodevelopmental disorder characterized by infantile-onset global developmental delay with severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy (summary by Palmer et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES; NEDMAGA

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

Top 5 symptoms//phenotypes associated to Macrocephaly and Feeding difficulties

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Gastroesophageal reflux Cleft palate Micrognathia Frontal bossing Microcephaly Prominent forehead Hearing impairment Short stature Respiratory distress Apnea

Rare Symptoms - Less than 30% cases

Motor delay Full cheeks Feeding difficulties in infancy Low-set, posteriorly rotated ears Narrow mouth Deep philtrum Posteriorly rotated ears Facial asymmetry Round face Ankylosis Dental malocclusion Dental crowding Preauricular skin tag Cupped ear Poor suck Cleft at the superior portion of the pinna Mandibular condyle aplasia Question mark ear Mandibular condyle hypoplasia Hypoplastic superior helix Glossoptosis Speech articulation difficulties Overfolding of the superior helices Mandibular prognathia Hirsutism Snoring Ptosis Downslanted palpebral fissures Absent speech Delayed myelination Failure to thrive Deeply set eye Wide nasal bridge Sensorineural hearing impairment Patent ductus arteriosus Cryptorchidism Strabismus Hyperactivity Bilateral facial palsy Calvarial osteosclerosis Unilateral facial palsy Asymmetry of the mandible Club-shaped distal femur Bony paranasal bossing Erlenmeyer flask deformity of the femurs Ataxia Bulbar palsy Upper airway obstruction Growth delay Epicanthus Postaxial polydactyly Rod-cone dystrophy Polydactyly Neonatal hypotonia EEG abnormality Polymicrogyria Infra-orbital crease Enlarged cisterna magna Molar tooth sign on MRI Encephalocele Cerebellar vermis hypoplasia Intellectual disability, profound Thick vermilion border Recurrent infections Peripheral neuropathy Central apnea Stenosis of the external auditory canal Happy demeanor Abnormality of the pinna Protruding ear Bifid uvula Abnormality of the outer ear Atresia of the external auditory canal Facial cleft External ear malformation Obstructive sleep apnea Microglossia Impaired mastication Tics Hamartoma of tongue Difficulty in tongue movements Anterior open-bite malocclusion Abnormality of the temporomandibular joint Hypoplasia of first ribs Periauricular skin pits Aplasia/Hypoplasia of the external ear Vein of Galen aneurysmal malformation Cleft helix Abnormality of the crus of the helix Broad columella Progressive spasticity Long penis Autism Temporomandibular joint ankylosis Pain Spasticity Depressed nasal bridge Abnormality of the nasopharynx Hypertonia Short nose Hyporeflexia Constipation Cerebral cortical atrophy Unsteady gait Prominent supraorbital ridges Thick eyebrow Downturned corners of mouth Everted lower lip vermilion Highly arched eyebrow Esotropia Open mouth Broad-based gait Stereotypy Progressive microcephaly Widely spaced teeth Cranial nerve compression Delayed eruption of teeth Sclerosis of skull base Abnormality of the musculature Talipes Muscle cramps Limitation of joint mobility Hip dysplasia Cutaneous syndactyly Hammertoe Metatarsus adductus Mild short stature Short finger Distal arthrogryposis Arthrogryposis multiplex congenita Trismus Symphalangism affecting the phalanges of the hand Cutaneous syndactyly of toes Calcaneovalgus deformity Tall chin Neoplasm Muscle weakness Hepatomegaly Ventriculomegaly Respiratory insufficiency Abnormality of the foot Hip dislocation Encephalopathy Broad forehead Atrial septal defect Abnormality of the dentition Autistic behavior Hypermetropia Thin vermilion border Coarctation of aorta Cognitive impairment Tremor Hyperlordosis Microtia Neurological speech impairment Camptodactyly Poor speech Long face Generalized myoclonic seizures Focal-onset seizure Delayed gross motor development Postnatal macrocephaly Abnormal facial shape Dysphagia Talipes equinovarus Syndactyly Dystonia Clinodactyly Nasal obstruction Tinnitus Melanocytic nevus Unilateral cryptorchidism Penoscrotal hypospadias Hypertelorism Blindness Conductive hearing impairment Facial palsy Otitis media Overgrowth Abnormality of pelvic girdle bone morphology Relative macrocephaly Increased susceptibility to fractures Metaphyseal widening Chronic otitis media Hyperostosis Flared metaphysis Osteomyelitis Mixed hearing impairment Abnormality of the vertebral column Metaphyseal dysplasia Misalignment of teeth Pterygium Finger clinodactyly Cerebellar hypoplasia Stridor Agenesis of corpus callosum Dyspnea Irritability Dolichocephaly Aciduria Postnatal microcephaly Cerebral visual impairment Severe muscular hypotonia Optic nerve hypoplasia Apathy Poor eye contact Decreased body weight Inspiratory stridor D-2-hydroxyglutaric aciduria L-2-hydroxyglutaric aciduria Flexion contracture Hypospadias Delayed skeletal maturation Retrognathia Small hand Triangular face Ambiguous genitalia Postauricular skin tag


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