Macrocephaly, and Everted lower lip vermilion

Diseases related with Macrocephaly and Everted lower lip vermilion

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

Top matches:

SOTOS SYNDROME 2; SOTOS2 Is also known as malan syndrome

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 2; SOTOS2

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

This form of nonsyndromic X-linked mental retardation is characterized by a spectrum of cognitive neurologic impairments or disabilities ranging from moderate mental retardation to high-functioning autism. Males are typically severely affected, but some carrier females may manifest milder deficits (summary by Piton et al., 2008).

MENTAL RETARDATION, X-LINKED 21; MRX21 Is also known as mental retardation, x-linked 34|mrx34

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 21; MRX21

Other less relevant matches:

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Short stature
  • Micrognathia
  • Brachydactyly
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 3; CED3

High match RIN2 SYNDROME

RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

High match MGAT2-CDG

MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).

MGAT2-CDG Is also known as cdg2a|cdgiia|cdg syndrome type iia|congenital disorder of glycosylation type iia|carbohydrate deficient glycoprotein syndrome type iia|n-acetylglucosaminyltransferase 2 deficiency|cdg-iia|alkuraya syndrome|carbohydrate-deficient glycoprotein syndrome, typ

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MGAT2-CDG

Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

High match HURLER SYNDROME

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

High match WILLIAMS SYNDROME

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Top 5 symptoms//phenotypes associated to Macrocephaly and Everted lower lip vermilion

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Pectus excavatum Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Macrocephaly and Everted lower lip vermilion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Open mouth Widely spaced teeth Macrotia Coarse facial features Microcephaly Seizures Thick vermilion border Cognitive impairment Scoliosis Downslanted palpebral fissures Pes planus Inguinal hernia Thick eyebrow Kyphoscoliosis Prominent supraorbital ridges Sensorineural hearing impairment Depressivity Growth delay Hearing impairment Abnormality of the dentition Hernia Abnormal facial shape Micrognathia Frontal bossing Joint laxity Cutis laxa Muscular hypotonia Autism Gingival overgrowth Long philtrum Gastroesophageal reflux Wide mouth Coxa valga Short nose Feeding difficulties Hypertonia Delayed speech and language development Depressed nasal bridge Strabismus Failure to thrive Single transverse palmar crease Broad nasal tip Joint hyperflexibility Umbilical hernia Brachydactyly Thick lower lip vermilion Abnormality of the skeletal system Mitral regurgitation Hirsutism Craniosynostosis Abnormal form of the vertebral bodies Abnormality of skin pigmentation Sparse hair Skeletal muscle atrophy Pulmonic stenosis High palate Narrow face Recurrent respiratory infections Kyphosis Congestive heart failure Osteopenia Severe global developmental delay Joint hypermobility Constipation Pectus carinatum Peripheral neuropathy Behavioral abnormality Decreased body weight Mandibular prognathia Redundant skin Gait disturbance Hypertelorism Intellectual disability, mild Stereotypy Epicanthus Hypertension Cataract Cerebral cortical atrophy Anxiety Intellectual disability, moderate Hyperactivity

Rare Symptoms - Less than 30% cases

Intellectual disability, severe Cleft palate Short neck Ventricular septal defect Proteinuria Diarrhea Thin upper lip vermilion Patent ductus arteriosus Oral cleft Attention deficit hyperactivity disorder Long eyelashes Small for gestational age Respiratory tract infection Cleft lip Aggressive behavior Tapered finger Clinodactyly of the 5th finger Psychosis Aortic valve stenosis Shallow orbits Subvalvular aortic stenosis Ventriculomegaly Posteriorly rotated ears Prominent nasal bridge Neurological speech impairment Protruding tongue Genu valgum Lumbar kyphosis Flexion contracture Wide nasal bridge Abdominal pain Glaucoma Joint stiffness Stroke Corneal opacity Carious teeth Sleep disturbance Rectal prolapse Macroglossia Full cheeks Microdontia Abnormality of the cardiovascular system Cardiomegaly Myocardial infarction Recurrent otitis media Abnormality of dental enamel Progressive hearing impairment Large earlobe Abnormal diaphysis morphology Myelopathy Prominent forehead Wide nose Anteverted nares Hydrocephalus Cardiomyopathy Delayed skeletal maturation Mental deterioration Feeding difficulties in infancy Hyperlordosis Protruding ear Ataxia Delayed eruption of teeth Abnormal aortic valve morphology Hypodontia Dental malocclusion Sleep apnea Schizophrenia Abnormality of dental morphology Loss of consciousness Thickened calvaria Spinal canal stenosis Soft skin Abnormal mitral valve morphology High forehead Thoracolumbar kyphoscoliosis Esotropia Sagittal craniosynostosis Narrow forehead Broad forehead Autistic behavior Renal insufficiency Hypoplasia of teeth Retrognathia Absent speech Peripheral pulmonary artery stenosis Long face Dry skin Obesity Osteoporosis Pain Spasticity Telecanthus Cryptorchidism Cutis marmorata Unsteady gait Overgrowth Broad palm Highly arched eyebrow Progressive spasticity Dental crowding Synophrys Urethral stenosis Advanced eruption of teeth Abnormality of the vasculature Sandal gap Palpebral edema Paroxysmal bursts of laughter Hyperreflexia Bilateral vocal cord paralysis Elevated serum creatine phosphokinase Elfin facies Medial flaring of the eyebrow Abnormal heart morphology Abnormality of the diencephalon Myopia Intrauterine growth retardation Tremor Abnormal carotid artery morphology Respiratory distress Midface retrusion Malar flattening Myopathy Atrial septal defect Dysarthria Dyslexia Cerebellar hypoplasia Smooth philtrum Hypoplasia of penis Mitral valve prolapse Hypotelorism Tetralogy of Fallot Dehydration Renal agenesis Otitis media Vesicoureteral reflux Myxomatous mitral valve degeneration Chest pain Sudden cardiac death Postural instability Dysmetria Malabsorption Diabetes mellitus Nausea and vomiting Abnormal cardiac septum morphology Scarring Blepharophimosis Paralysis Irritability Developmental regression Abnormality of the kidney Low-set, posteriorly rotated ears Hypertrophic cardiomyopathy Arthralgia Visual impairment Micropenis Vocal cord dysfunction Hypothyroidism Stiff interphalangeal joints Ptosis Large sella turcica Urinary glycosaminoglycan excretion Hernia of the abdominal wall Calvarial hyperostosis Cervical myelopathy Abnormality of the middle ear ossicles Enlargement of the wrists Abnormal hand morphology Heparan sulfate excretion in urine Hip subluxation Atlantoaxial dislocation Abnormality of the gingiva J-shaped sella turcica Prominent sternum Anterior rib cupping Flared nostrils Cervical kyphosis Narrow pelvis bone Meckel diverticulum Nystagmus-induced head nodding Anterior open bite Abnormal nerve conduction velocity Difficulty standing Sclerosis of skull base Large face Mucopolysacchariduria Biconcave vertebral bodies Chronic rhinitis Retinal fold Recurrent ear infections Diaphyseal thickening Short mandibular rami Abnormal CNS myelination Delayed ossification of the hand bones Thick skull base Abnormal mandibular ramus morphology Abnormality of premolar morphology Thyroid hemiagenesis Abnormal mandible coronoid process morphology Coarctation of aorta Abnormality of the tympanic membrane Abnormality of glycosaminoglycan metabolism Increased size of nasopharyngeal adenoids Abnormality of the wing of the ilium Broad long bone diaphyses Bullet-shaped phalanges of the hand Proximal tapering of metacarpals Enlarged vertebral pedicles Deformed humerus Delayed tarsal ossification Dermatan sulfate excretion in urine Abnormality of joint mobility Broad ischia Flaring of rib cage Abnormality of lysosomal metabolism Mandibular condyle hypoplasia Cervical subluxation Hypoplastic cervical vertebrae Enlarged tonsils C1-C2 subluxation Abnormality of the tonsils Calcification of falx cerebri Hypoplasia of the femoral head Abnormality of the pubic bone Abnormality of mucopolysaccharide metabolism Abnormality of extrapyramidal motor function Involuntary movements Hypsarrhythmia Abnormality of lipid metabolism Pulmonary artery stenosis Poor coordination Nevus flammeus Thyroid hypoplasia Arnold-Chiari type I malformation Dyssynergia Descending aorta hypoplasia Abnormal endocardium morphology Aplasia/Hypoplasia of the iris Renal duplication Colonic diverticula Posterior embryotoxon Vascular tortuosity Broad femoral neck Multiple renal cysts Megalocornea Insomnia Restlessness Abnormality of the ankles Facial cleft Prematurely aged appearance High hypermetropia Celiac disease Vertebral segmentation defect Premature graying of hair Tubulointerstitial abnormality Hallux valgus Open bite Polyuria Patellar dislocation Retinal vascular tortuosity Tracheoesophageal fistula Cystic renal dysplasia Cerebral ischemia Abnormality of refraction Gait imbalance Enuresis Periorbital fullness Decreased plasma carnitine Abnormal renal morphology Abnormality of the cerebral vasculature Abnormality of the neck Tubulointerstitial nephritis Lacrimation abnormality Functional abnormality of male internal genitalia Bladder diverticulum Right ventricular hypertrophy Down-sloping shoulders Peptic ulcer Periorbital edema Arterial stenosis Dysgraphia Abnormality of nervous system morphology Chronic constipation Phonophobia Parathyroid hyperplasia Hypoplasia of the zygomatic bone Abnormal glucose tolerance Increased nuchal translucency Stellate iris Blue irides Vocal cord paralysis Glucose intolerance Hypoplastic toenails Type II diabetes mellitus Increased body weight Ischemic stroke Renovascular hypertension Abnormal social behavior Sacral dimple Bicuspid aortic valve Abnormal dermatoglyphics Spina bifida occulta Abnormality of the fingernails Nephrocalcinosis Hemivertebrae Hypogonadotrophic hypogonadism Overfriendliness Pointed chin Flat cornea Arnold-Chiari malformation Increased bone mineral density Supravalvular aortic stenosis Hoarse voice Amblyopia Nephrolithiasis Impaired visuospatial constructive cognition Recurrent urinary tract infections Villous atrophy Calcification of the aorta Hemiparesis Unilateral renal hypoplasia Small nail Renal hypoplasia Ventricular hypertrophy Infantile muscular hypotonia Reduced bone mineral density Overriding aorta Abnormality of the bladder Unilateral renal agenesis Obsessive-compulsive behavior Chronic otitis media Nephritis Abnormality of the voice Portal hypertension Precocious puberty Radioulnar synostosis Failure to thrive in infancy Hypercalcemia Aortic arch aneurysm Obsessive-compulsive trait Nocturia Synostosis of joints Renal artery stenosis Adducted thumb Coronary artery stenosis Retinal arteriolar tortuosity Hyperacusis Pelvic kidney Cholelithiasis Hypercalciuria Food intolerance Infantile hypercalcemia Dysphonia Polycystic ovaries Incoordination Early onset of sexual maturation Abnormality of pelvic girdle bone morphology Abnormality of the gastric mucosa Delayed ossification of carpal bones Camptodactyly of finger Rhinorrhea Nasal speech Abnormality of the coagulation cascade Proximal placement of thumb Intellectual disability, progressive Tall stature Bilateral sensorineural hearing impairment Convex nasal ridge Thin vermilion border Postnatal growth retardation Brachycephaly Six lumbar vertebrae Broad face Bipolar affective disorder Horseshoe kidney Slender long bone Aspiration Anorexia Pulmonary arterial hypertension Prominent nose Facial asymmetry Short philtrum Gait ataxia Clinodactyly Hypospadias Microphthalmia Low-set ears Infra-orbital fold Upper eyelid edema Narrow nasal bridge Self-mutilation Irregular dentition Dilated cardiomyopathy Aplasia/Hypoplasia of the cerebellum Self-injurious behavior Coarse hair Aplasia/Hypoplasia of the corpus callosum Narrow palate Abnormality of the hair Wide anterior fontanel Abnormality of retinal pigmentation Cerebellar vermis hypoplasia Short metacarpal Tetraplegia Hypoplasia of the maxilla Short distal phalanx of finger Hypoplasia of the corpus callosum Low hanging columella Optic atrophy Muscle weakness Midfrontal capillary hemangioma Type II transferrin isoform profile Reduced factor XII activity Reduced factor XI activity Reduced factor IX activity Abnormal isoelectric focusing of serum transferrin Reduced antithrombin III activity Macrodontia Diastema Abnormality of the rib cage Volvulus Abnormal lip morphology Eclabion Abnormality of neuronal migration Upslanted palpebral fissure Cirrhosis Stage 5 chronic kidney disease Toe syndactyly Narrow chest Polydactyly Rod-cone dystrophy Syndactyly Maxillary lateral incisor microdontia Uplifted earlobe Macroorchidism Impulsivity Tented upper lip vermilion Short palm Happy demeanor Ectodermal dysplasia Broad columella Tics Progressive microcephaly Broad-based gait Downturned corners of mouth Hyporeflexia Long fingers Accelerated skeletal maturation Astigmatism Hypermetropia Narrow mouth Motor delay Nystagmus Postaxial polydactyly Limb undergrowth Generalized osteoporosis Ichthyosis Abnormality of the sternum Prolonged bleeding time High pitched voice Premature ovarian insufficiency Aortic aneurysm Increased susceptibility to fractures Hyperextensible skin Hypergonadotropic hypogonadism Sparse and thin eyebrow Bronchiectasis Sparse scalp hair High myopia Bruising susceptibility Hypogonadism Postaxial hand polydactyly Alopecia Dilatation 3-4 toe syndactyly Broad nail Bilateral postaxial polydactyly Short nail Scaphocephaly Nephronophthisis Chronic kidney disease Hepatic fibrosis Rhizomelia Cholestasis Fine hair Large hands Emphysema Abnormality of peripheral nerve conduction Corneal dystrophy Coronary artery atherosclerosis Flared metaphysis Multiple joint contractures Metatarsus adductus Toe walking Heart murmur Stridor Language impairment Hemiplegia Back pain Recurrent upper respiratory tract infections Increased intracranial pressure Hyperammonemia Cerebral palsy Abnormal heart valve morphology Aortic regurgitation Coxa vara Opacification of the corneal stroma Spastic paraparesis Generalized hirsutism Elbow flexion contracture Abnormal vertebral morphology Exotropia Abnormality of epiphysis morphology Thickened skin Chronic diarrhea Left ventricular hypertrophy Encephalocele Restrictive ventilatory defect Arthropathy Hypertrichosis Tracheal stenosis Constrictive median neuropathy Endocardial fibroelastosis Seborrheic dermatitis Pulmonary edema Foam cells Flared iliac wings Cor pulmonale Conical tooth Angina pectoris Hypoplastic ilia Upper airway obstruction Communicating hydrocephalus Beaking of vertebral bodies Abnormality of the respiratory system Rhinitis Dysostosis multiplex Diastasis recti Gingivitis Abnormality of the clavicle Abnormality of the skull Obstructive sleep apnea Recurrent lower respiratory tract infections Abnormality of the elbow Peripheral visual field loss Protuberant abdomen Hypoplasia of the odontoid process Short clavicles Thoracic scoliosis Split hand Progressive neurologic deterioration Broad hallux Abnormal tricuspid valve morphology Edema Respiratory insufficiency Hepatomegaly Drumstick terminal phalanges Abnormality of the nasal alae Thick nasal septum Bifid sternum Uterine prolapse Retinoschisis Pseudoepiphyses of the metacarpals Stooped posture Cataplexy Hyperconvex fingernails Broad finger Splenomegaly Narrow iliac wings Thick nasal alae Premature loss of primary teeth Hyperextensibility of the finger joints Delayed closure of the anterior fontanelle Craniofacial hyperostosis Restrictive cardiomyopathy Hypoplastic fingernail Acrocyanosis Severe sensorineural hearing impairment Anteriorly placed anus Atonic seizures Abnormality of digit Vomiting Headache Interphalangeal joint contracture of finger Dolichocephaly Intellectual disability, profound Lumbar hyperlordosis Abnormality of the ribs Progressive visual loss Hip dysplasia Abnormality of the skin Limitation of joint mobility Asthma Neurodegeneration High, narrow palate Inability to walk Retinal degeneration Abnormality of eye movement Nyctalopia Visual loss Abnormal pyramidal sign Retinopathy Pallor Apnea Conductive hearing impairment Elevated hepatic transaminase Hepatosplenomegaly Skeletal dysplasia Dyspnea Proptosis Pes cavus Pneumonia Arrhythmia Atrophy/Degeneration involving the corticospinal tracts


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Vertigo, related diseases and genetic alterations Neuroblastoma and Thrombocytopenia, related diseases and genetic alterations Macrocephaly and Tapered finger, related diseases and genetic alterations Spasticity and Paresthesia, related diseases and genetic alterations Peripheral neuropathy and Coronary artery atherosclerosis, related diseases and genetic alterations Generalized hypotonia and Pancytopenia, related diseases and genetic alterations