Macrocephaly, and Arachnodactyly

Diseases related with Macrocephaly and Arachnodactyly

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).

5P13 MICRODUPLICATION SYNDROME Is also known as dup(5)(p13)|trisomy 5p13

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 5P13 MICRODUPLICATION SYNDROME

Other less relevant matches:

Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.

X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS Is also known as lujan syndrome|mental retardation, x-linked, with marfanoid habitus|lujan-fryns syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH MARFANOID HABITUS

Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

ZTTK syndrome is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016).

BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME Is also known as zttk multiple congenital anomalies-mental retardation syndrome|zhu-tokita-takenouchi-kim syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME

X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

X-LINKED CENTRONUCLEAR MYOPATHY Is also known as x-linked myotubular myopathy|myotubular myopathy, x-linked|myotubular myopathy 1|xlmtm|mtmx|xlcnm|mtm1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CENTRONUCLEAR MYOPATHY

Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.

EHLERS-DANLOS SYNDROME, PROGEROID TYPE Is also known as pds, defective biosynthesis of|ehlers-danlos syndrome with short stature and limb anomalies|edsp1, formerly|eds, progeroid type|xgpt deficiency|dermatan sulfate proteoglycan|proteodermatan sulfate, defective biosynthesis of|edssla|xylosylprotein 4-beta-ga

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PROGEROID TYPE

2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Macrocephaly and Arachnodactyly

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Scoliosis Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears

Common Symptoms - More than 50% cases

Prominent forehead

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Frontal bossing

Common Symptoms - More than 50% cases

Long face

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Joint laxity Flexion contracture Prominent nasal bridge Growth delay Proptosis Short philtrum Downslanted palpebral fissures Myopia Craniosynostosis Pectus excavatum Wide nasal bridge Strabismus High forehead Joint hyperflexibility Cleft palate Feeding difficulties Abnormality of the dentition Micrognathia Long fingers Brachycephaly Broad forehead Epicanthus Talipes equinovarus Short palpebral fissure Failure to thrive Dilatation Relative macrocephaly Narrow mouth Aortic aneurysm Aortic root aneurysm Autism Thin upper lip vermilion Respiratory distress Thin skin Midface retrusion Sparse eyebrow Short stature Long foot Mandibular prognathia Intellectual disability, mild Kyphosis Narrow face Pes planus Hydrocephalus Kyphoscoliosis Malar flattening

Rare Symptoms - Less than 30% cases

Prominent scalp veins Curly hair Pes valgus Fatigue Narrow chest Progeroid facial appearance Narrow nose Long nose Depressed nasal bridge Slender build Cryptorchidism Ptosis Inguinal hernia Lipodystrophy Cognitive impairment Cutis laxa Skeletal muscle atrophy Slender toe Short nose Ventricular septal defect Hernia Hypoplasia of the maxilla Hypermetropia Facial asymmetry Smooth philtrum Joint hypermobility Thin vermilion border Postnatal growth retardation Dental crowding Broad thumb Accelerated skeletal maturation Osteopenia Brachydactyly Attention deficit hyperactivity disorder Osteoporosis Protruding ear Aggressive behavior Severe muscular hypotonia Hyperactivity Behavioral abnormality Nasal speech Abnormality of cardiovascular system morphology Clinodactyly of the 5th finger Respiratory failure Abnormality of the cerebral white matter Coxa valga Blepharophimosis Sparse hair Bruising susceptibility Posteriorly rotated ears Agenesis of corpus callosum Upslanted palpebral fissure Generalized osteoporosis Macrotia Pectus carinatum Hyperextensible skin Dental malocclusion Pyloric stenosis Disproportionate tall stature Large hands Tall stature High myopia Triangular face Absent speech Cerebellar hypoplasia Ventriculomegaly Exotropia Hypertension Bulbous nose Gastroesophageal reflux Intellectual disability, severe Intrauterine growth retardation Obsessive-compulsive behavior Cerebellar atrophy Hip dysplasia Fine hair Narrow forehead Sleep disturbance Dyspnea Delayed speech and language development Sparse eyelashes Joint dislocation Radioulnar synostosis Flat face Single transverse palmar crease Sparse scalp hair Elbow flexion contracture Aortic valve stenosis Bifid uvula Sparse and thin eyebrow Blue sclerae Bowing of the long bones Cutaneous photosensitivity Congenital diaphragmatic hernia Nevus Hyperlordosis Short neck Abnormality of skin pigmentation Hypokinesia Head tremor Facial diplegia Hypoventilation Neck muscle weakness Centrally nucleated skeletal muscle fibers Weak cry Mask-like facies Diaphragmatic eventration Neonatal respiratory distress Myotonia Ophthalmoparesis Cholelithiasis Atrioventricular block Hemangioma Sleep apnea Spherocytosis Cavernous hemangioma Pulmonic stenosis Alopecia Microtia Scarring Telecanthus Abnormality of the nervous system Skeletal dysplasia Severe short stature Bilateral cryptorchidism Fractures of the long bones Motor delay Hearing impairment Hepatic hemangioma Respiratory failure requiring assisted ventilation Birth length greater than 97th percentile Premature adrenarche Nocturnal hypoventilation Elbow dislocation Large joint dislocations Bowing of the legs Long eyelashes Overlapping toe Abnormality of dental morphology Dermal atrophy Tented upper lip vermilion Oligodontia Drooling Microretrognathia Broad-based gait Myopathic facies Hemiparesis Intellectual disability, profound Decreased testicular size Convex nasal ridge Febrile seizures Nail dysplasia Prominent nose Bilateral talipes equinovarus Abnormality of digit Downturned corners of mouth Happy demeanor Conspicuously happy disposition Narrow maxilla Incomprehensible speech Dacryocystitis Large beaked nose Median cleft palate Toe clinodactyly Overbite Restlessness Excessive salivation Cleft soft palate Conical tooth Broad hallux phalanx Short columella Self-mutilation Abnormality of the periventricular white matter Ectodermal dysplasia Wide nose Atrophic scars Small face Absent earlobe Talipes equinovalgus Forearm undergrowth Ulnar bowing Dermal translucency Long toe Poor wound healing Varicose veins Advanced ossification of carpal bones Mild global developmental delay Periodontitis Atypical scarring of skin Gingivitis Genu recurvatum Short clavicles Proportionate short stature Flat forehead Soft, doughy skin Short palm Long philtrum Thick eyebrow Talipes Poor speech Abnormality of the foot Camptodactyly Anxiety Hyperhidrosis Anteverted nares Testicular torsion Hyperreflexia Spasticity Microcephaly Palmoplantar cutis gyrata Abnormality of primary teeth Facial wrinkling Phalangeal dislocation External ophthalmoplegia Hemivertebrae Nephrocalcinosis Abnormality of the voice Abnormality of the sternum Atrial septal defect Growth abnormality Camptodactyly of finger Neurological speech impairment Psychosis Open mouth Anorexia Hallucinations Short chin Aplasia/Hypoplasia of the corpus callosum Abnormality of the genitourinary system Schizophrenia Deep philtrum Emotional lability Narrow palm Oppositional defiant disorder Dilated cardiomyopathy Hip dislocation Hypertrophic cardiomyopathy Congestive heart failure Abnormally folded helix Cat cry Low frustration tolerance Narrow nasal bridge Velopharyngeal insufficiency Ascending tubular aorta aneurysm Impaired social interactions Abnormality of the rib cage Macroorchidism Slender finger Abnormality of the musculature Dural ectasia Myocardial infarction Long neck Astigmatism Small for gestational age Cerebral cortical atrophy Gait ataxia Severe expressive language delay Thick corpus callosum Expressive language delay Low posterior hairline Metopic synostosis Communicating hydrocephalus Megalencephaly Difficulty walking Lumbar hyperlordosis Overgrowth Hypotelorism Stereotypy Hyperextensibility of the finger joints Increased body weight Entropion Severe intrauterine growth retardation Scaphocephaly Reduced subcutaneous adipose tissue Ataxia Ectopia lentis Oligohydramnios Overweight Mitral valve prolapse Premature birth High, narrow palate Arthrogryposis multiplex congenita Retrognathia Turricephaly Specific learning disability Cardiac arrest EMG abnormality Polyhydramnios Infantile muscular hypotonia Unilateral renal agenesis Abnormality of coagulation Arachnoid cyst Soft skin Periventricular leukomalacia Intestinal atresia Muscle weakness Anemia Gait disturbance Dysphagia Respiratory insufficiency Myopathy Areflexia Facial palsy Horseshoe kidney Abnormal bleeding Decreased liver function Progressive muscle weakness Nephrolithiasis Decreased fetal movement Hepatitis Waddling gait Generalized muscle weakness Apnea Inability to walk Lower limb muscle weakness Limb muscle weakness Ophthalmoplegia Dolichocephaly Paralysis Abnormal cerebellum morphology Cerebral visual impairment Coxa vara Cardiorespiratory arrest Arterial stenosis Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Myocarditis Esophagitis Aortic dissection Hiatus hernia Median cleft lip and palate Pulmonary artery stenosis Prematurely aged appearance Keratoconus Telangiectasia of the skin Rocker bottom foot Redundant skin Femoral hernia Long palm Abnormality of the ribs Deeply set eye Esotropia Full cheeks Short foot Small hand Autistic behavior Developmental regression Visual loss Keratoglobus Hypoplasia of the corpus callosum Optic atrophy Visual impairment Nystagmus Abnormality of the zygomatic bone Abnormal carotid artery morphology Narrow jaw


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