Macrocephaly, and Retrognathia

Diseases related with Macrocephaly and Retrognathia

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

Top matches:

Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.

INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME Is also known as foxp1 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME

Related symptoms:

  • Short stature
  • Hypertelorism
  • High palate
  • Motor delay
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME

Other less relevant matches:

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

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.

CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME Is also known as mental retardation, x-linked, syndromic 28|graham-cox syndrome|mrxs28

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16)|prader-willi-like syndrome due to deletion 6q16|monosomy 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q16 DELETION SYNDROME

Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Spasticity
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL LAMBDOID SYNOSTOSIS

High match FOWLER SYNDROME

The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016).

FOWLER SYNDROME Is also known as epv|cerebral proliferative glomeruloid vasculopathy|fowler syndrome|proliferative vasculopathy and hydranencephaly/hydrocephaly|hydranencephaly, fowler type|hydrocephaly/hydranencephaly due to cerebral vasculopathy|encephaloclastic proliferative vasculopa

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FOWLER SYNDROME

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7 Is also known as walker-warburg syndrome or muscle-eye-brain disease, ispd-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Low-set ears
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7

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

Top 5 symptoms//phenotypes associated to Macrocephaly and Retrognathia

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Microretrognathia Delayed speech and language development High palate Prominent forehead Downslanted palpebral fissures Ventriculomegaly Hydrocephalus Short stature Proptosis Broad nasal tip Seizures Craniosynostosis Nystagmus

Rare Symptoms - Less than 30% cases

Dandy-Walker malformation Recurrent fractures Reduced bone mineral density Autistic behavior Decreased fetal movement Lissencephaly Triangular face Microcephaly Lambdoidal craniosynostosis Epicanthus Muscular hypotonia Clinodactyly of the 5th finger Hypoplasia of the brainstem Finger clinodactyly Flexion contracture Feeding difficulties Prominent nasal bridge Patent ductus arteriosus Feeding difficulties in infancy Small hand Pterygium Agenesis of corpus callosum Visual impairment Cerebellar hypoplasia Scoliosis Cleft palate Short nose Pectus excavatum Poor speech Aggressive behavior Anxiety Autism Stereotypy Obesity Relative macrocephaly Behavioral abnormality Strabismus Motor delay Kyphosis Optic nerve hypoplasia Midface retrusion Cataract Severe hydrocephalus Craniofacial dysostosis Multiple pterygia Stomatocytosis Respiratory insufficiency Hypoplasia of the corpus callosum Dimple chin Limb joint contracture Hydranencephaly Prominent scalp veins Fetal akinesia sequence Micrognathia Polyhydramnios Arthrogryposis multiplex congenita Premature birth Dilatation Skeletal muscle atrophy Intrauterine growth retardation Cerebral calcification Hypsarrhythmia Cystic hygroma Growth delay Posterior plagiocephaly Akinesia Pansynostosis Diminished ability to concentrate Round ear Ectopic posterior pituitary Abnormality of metabolism/homeostasis Large fontanelles Microphthalmia Elevated hepatic transaminase Abnormal facial shape Ptosis Abnormality of the skeletal system Atrial septal defect Cerebral atrophy Posteriorly rotated ears Osteoporosis Hypoglycemia Low-set, posteriorly rotated ears Agyria Long face Highly arched eyebrow Nevus Febrile seizures Cafe-au-lait spot Accelerated skeletal maturation Hyperlipidemia Hyperinsulinemia Nevus flammeus Remnants of the hyaloid vascular system Type II lissencephaly Areflexia Encephalocele Elevated serum creatine phosphokinase Glaucoma Deeply set eye Facial palsy Microtia Muscular dystrophy Polymicrogyria Retinal detachment Intellectual disability, profound Pachygyria Peters anomaly Heterotopia Arnold-Chiari type I malformation Adducted thumb Congenital muscular dystrophy Partial agenesis of the corpus callosum Weak cry Gonadal dysgenesis Retinal dysplasia Corpus callosum atrophy Anterior plagiocephaly Abnormality of cardiovascular system morphology External ear malformation Wide nasal bridge High pitched voice Thin ribs Turricephaly Coronal craniosynostosis Decreased skull ossification Narrow iliac wings Fractures of the long bones Clinodactyly Blue sclerae Pneumonia Mandibular prognathia Hepatosplenomegaly Recurrent pneumonia Scaphocephaly Cryptorchidism Hypospadias Delayed skeletal maturation Wormian bones Oligohydramnios Decreased body weight Apraxia Failure to thrive Hyperactivity Intellectual disability, moderate Irritability Attention deficit hyperactivity disorder Broad forehead Delayed myelination Open mouth Platyspondyly Drooling Delayed gross motor development Language impairment Delayed ability to walk Large forehead Speech apraxia Osteopenia Postnatal growth retardation Ambiguous genitalia Melanocytic nevus Flat occiput Anteverted nares Full cheeks Round face Polyphagia Narrow nose Misalignment of teeth Spasticity Depressed nasal bridge Hypertonia Short foot Malar flattening Telecanthus Protruding ear Blepharophimosis Facial asymmetry Downturned corners of mouth Plagiocephaly Increased intracranial pressure Tapered finger Short palm Unilateral cryptorchidism Coloboma Penoscrotal hypospadias Hearing impairment Sensorineural hearing impairment Ventricular septal defect Short neck High forehead Abnormality of the pinna Iris coloboma Bulbous nose Choanal atresia Cupped ear Broad neck Optic nerve coloboma Myopia Brachycephaly Macrotia EEG abnormality Deep palmar crease


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