Motor delay, and Lymphedema

Diseases related with Motor delay and Lymphedema

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

Top matches:

Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontonasal malformation|fnm|frontonasal dysplasia|median facial cleft syndrome|frontorhiny|fnd

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA 1; FND1

Other less relevant matches:

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Medium match COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Hennekam lymphangiectasia-lymphedema syndrome-3 (HKKLLS3) is characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity (Brouillard et al., 2017).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape
  • Edema


SOURCES: OMIM MENDELIAN

More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3; HKLLS3

Lissencephaly-7 with cerebellar hypoplasia is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (summary by Magen et al., 2015).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7

Top 5 symptoms//phenotypes associated to Motor delay and Lymphedema

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Frontal bossing Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Motor delay and Lymphedema. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Anteverted nares

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Short neck

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Strabismus

Common Symptoms - More than 50% cases

Long philtrum

Uncommon Symptoms - Between 30% and 50% cases

Inguinal hernia Atrial septal defect Scoliosis Epicanthus Micrognathia Depressed nasal bridge Ptosis Generalized hypotonia Hypermetropia Pectus excavatum Polyhydramnios Pectus carinatum Microcephaly Webbed neck Hydrocephalus Abnormality of cardiovascular system morphology Abnormal heart morphology Edema Pulmonic stenosis Downslanted palpebral fissures Growth delay Full cheeks Thick vermilion border Gastroesophageal reflux Ventricular septal defect Delayed speech and language development Feeding difficulties Hearing impairment Cryptorchidism Delayed skeletal maturation Myopathy Agenesis of corpus callosum Macrotia Dolichocephaly Intellectual disability, mild Joint laxity Intellectual disability, moderate Cutis laxa Hyperextensible skin Wide nasal bridge Talipes equinovarus Deep palmar crease Neoplasm Neurodevelopmental delay Short nose Osteopenia Growth hormone deficiency Proptosis Cerebral cortical atrophy Prominent forehead Hernia Fine hair Long eyelashes Genu valgum Sleep disturbance High, narrow palate Irritability Abnormality of the dentition Ventriculomegaly Malar flattening High palate Cognitive impairment Nystagmus Low posterior hairline Failure to thrive Poor suck Hyperpigmentation of the skin Joint hypermobility Astigmatism Cafe-au-lait spot Narrow palate Feeding difficulties in infancy Low-set, posteriorly rotated ears Sparse hair Posteriorly rotated ears Nevus Failure to thrive in infancy Cardiomyopathy Pleural effusion Wide nose

Rare Symptoms - Less than 30% cases

Delayed CNS myelination Hypoplastic toenails Respiratory failure Tongue thrusting Hyperhidrosis Short chin Pointed chin Cerebral visual impairment Arthrogryposis multiplex congenita Dental malocclusion Vesicoureteral reflux Cerebral atrophy Hydrops fetalis Accelerated skeletal maturation Thick eyebrow Coarse facial features Clinodactyly of the 5th finger Vomiting Deep philtrum Behavioral abnormality Gait disturbance Midface retrusion Absent speech Hypertrophic cardiomyopathy Constipation Hyperkeratosis Autism Relative macrocephaly Umbilical hernia EEG abnormality Respiratory distress Hydronephrosis Aggressive behavior Redundant skin Dysphagia Osteoporosis Hip dysplasia Generalized hyperpigmentation Bicuspid aortic valve Postnatal growth retardation Hepatomegaly Premature birth Woolly hair Arnold-Chiari type I malformation Decreased body weight Short attention span Hepatosplenomegaly Abnormality of the testis High forehead Curly hair Thrombocytopenia Hemangioma Splenomegaly Large for gestational age Optic atrophy Hypertension Thick upper lip vermilion Abnormal mitral valve morphology Congestive heart failure Myopia Abnormal bleeding Ascites Cubitus valgus Bruising susceptibility Falls Kyphoscoliosis Leukemia Abnormal cardiac septum morphology Abnormality of the foot Mitral regurgitation Flat face Hyperextensibility of the finger joints Esotropia Dysarthria Heart murmur Mitral valve prolapse Cardiomegaly Bilateral ptosis Pain Bulbous nose Hypoglycemia Abnormality of the genital system Abnormality of the skeletal system Postural instability Delayed gross motor development Lipoma Lymphoma Broad philtrum Cleft palate Talipes Joint hyperflexibility Hypotrichosis Aortic aneurysm Joint dislocation Neurological speech impairment Abnormality of the optic nerve Hypogonadism Brachycephaly Upslanted palpebral fissure Obesity Clinodactyly Hip dislocation Alopecia Cataract Telecanthus Multiple cafe-au-lait spots Multiple lipomas Tall stature Ganglioneuroblastoma Absent eyebrow Obsessive-compulsive behavior Transitional cell carcinoma of the bladder Infantile muscular hypotonia Frontal hirsutism Vestibular Schwannoma Deep-set nails Embryonal rhabdomyosarcoma Multifocal atrial tachycardia Choroid plexus papilloma Bladder carcinoma Cardiomyocyte hypertrophy Loose anagen hair Macrocephaly at birth Neonatal sepsis Abnormality of the sternum Open bite Poor appetite Postprandial hyperglycemia Abnormality of the gastrointestinal tract Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Enlarged kidney Shyness Abnormal eyelash morphology Alopecia of scalp Atopic dermatitis Underdeveloped supraorbital ridges Malnutrition Anal stenosis Submucous cleft hard palate Hypopnea Concentric hypertrophic cardiomyopathy Biparietal narrowing Abnormal heart valve morphology Long palpebral fissure Infantile spasms Neurofibromas Aplasia/Hypoplasia of the eyebrow Hydroureter Enlarged cerebellum Alveolar rhabdomyosarcoma Myofiber disarray Hepatic steatosis Inflammatory abnormality of the skin Hemiparesis Myocardial infarction Coarctation of aorta Narrow forehead Abnormality of the cardiovascular system Progressive visual loss Areflexia Intestinal malrotation Abdominal distention Palmoplantar keratoderma Cerebellar hypoplasia Facial edema Hirsutism Lissencephaly Retinal dystrophy Long face Abnormality of skin pigmentation Peripheral axonal neuropathy Centrally nucleated skeletal muscle fibers Ichthyosis Dry skin Hand clenching Abnormality of the cerebral white matter Nail dystrophy Open mouth Thickened skin Vitreomacular adhesion Systolic heart murmur Tendon rupture Chronic otitis media Melanocytic nevus Dystrophic fingernails Ectropion Scaling skin Sparse eyebrow Lymphangiectasis Congenital neuroblastoma Brittle hair Thickened Achilles tendon Abnormality of vision Increased corneal curvature Aspiration Palmoplantar hyperkeratosis Optic nerve hypoplasia Abnormality of the genitourinary system Sleep apnea Synophrys Abnormal intestine morphology Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Oculomotor apraxia Protein-losing enteropathy Sparse eyelashes Abnormality of the nail Abnormal hair pattern Gastrointestinal dysmotility Body odor Achilles tendon contracture Eczema Fragile nails Overgrowth Abnormality of the skin Sepsis Macroglossia Scarring Megalencephaly Barrel-shaped chest Progeroid facial appearance Large earlobe Tetraplegia Large forehead Epidermal acanthosis Verrucae Hematuria Tachycardia Delayed puberty Central apnea Wide mouth Apnea Abnormality of the nervous system Lack of skin elasticity Redundant neck skin Carcinoma Labial hypoplasia Asymmetric septal hypertrophy Apraxia Thickened nuchal skin fold Severe short stature Abnormality of dental enamel Laryngomalacia Pyloric stenosis Hyperglycemia Bilateral cryptorchidism Tricuspid regurgitation Rocker bottom foot Reduced subcutaneous adipose tissue Keratoconus Abnormal dermatoglyphics Neuroblastoma Rhabdomyolysis Acanthosis nigricans Abnormality of the fingernails Ulnar deviation of finger Microscopic hematuria Tracheomalacia Hoarse voice Abnormality of the hair Central hypotonia Syringomyelia Wide anterior fontanel Neonatal hypoglycemia Soft skin Obstructive sleep apnea Hypoplasia of dental enamel Atrial fibrillation Severe postnatal growth retardation Thick lower lip vermilion Fasting hypoglycemia Pes cavus Abnormal myocardium morphology Hematemesis Abnormality of earlobe Limited elbow movement Fetal distress Sparse or absent eyelashes Bronchomalacia Multiple lentigines Papilloma Large face Thin nail Cavernous hemangioma Deep plantar creases Abnormality of hair texture Excessive wrinkled skin Abnormality of the pulmonary artery Broad femoral neck Melena Abnormal aortic valve morphology Triangular mouth Capillary malformation Subvalvular aortic stenosis Bladder neoplasm Thickened helices Abnormal pulmonary valve morphology Slow-growing hair Duodenal ulcer Ulnar deviation of the wrist Arnold-Chiari malformation Abnormality of refraction Schwannoma Increased nuchal translucency Arrhythmia Abnormality of the hairline Renal insufficiency Respiratory insufficiency Oral aversion Multiple plantar creases Eyelid fasciculation Hypoplasia of teeth Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormal location of ears Hyperkeratosis pilaris Endocarditis Functional abnormality of the gastrointestinal tract Laryngeal cleft Concave nail Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Pneumothorax Abnormality of the optic disc Anterior creases of earlobe Frontal balding Rhabdomyosarcoma Pruritus Enlarged metaphyses Erythema Preaxial foot polydactyly Scleral staphyloma Widely-spaced maxillary central incisors Hypoplastic frontal sinuses Absent tibia Median cleft palate Parietal foramina Broad columella Bifid nose Agenesis of cerebellar vermis Alopecia totalis Bifid nasal tip Conical tooth Widow's peak Cranium bifidum occultum Calvarial skull defect Short columella Coronal craniosynostosis Meningocele Median cleft lip Facial cleft Occipital encephalocele Partial agenesis of the corpus callosum Adrenal insufficiency Diabetes insipidus Radial deviation of finger Anophthalmia Preaxial polydactyly Morning glory anomaly Lipoma of corpus callosum Scrotal hypoplasia Protruding ear Dental crowding Chronic diarrhea Nephrolithiasis Renal dysplasia Broad-based gait Hepatitis Renal cyst Hepatic failure Unsteady gait Facial asymmetry Nausea and vomiting Autistic behavior Abnormality of the pinna Frontal cutaneous lipoma Anxiety Neonatal hypotonia Deeply set eye Hyperactivity Hyporeflexia Patent ductus arteriosus Recurrent infections Headache Immunodeficiency Diarrhea Anterior basal encephalocele Midline facial cleft Pectoral muscle hypoplasia/aplasia Easy fatigability Joint contracture of the hand Multicystic kidney dysplasia Intracranial hemorrhage Neoplasm of the breast Visceral angiomatosis Intestinal polyposis Thyroid carcinoma Angina pectoris Arteriovenous malformation Meningioma Capillary hemangioma Hashimoto thyroiditis Irregular hyperpigmentation Hamartoma Cutis marmorata Cachexia Subcutaneous hemorrhage Telangiectasia Subcutaneous nodule Broad thumb Skeletal muscle atrophy Muscle weakness Enlarged joints Multiple epiphyseal dysplasia Molar tooth sign on MRI Epiphyseal dysplasia Abnormality of epiphysis morphology Osteoarthritis Brain atrophy Finger syndactyly Hamartomatous polyposis Abdominal wall muscle weakness Preauricular skin tag Oral cleft Abnormality of the face Heterotopia Encephalocele Oligohydramnios Postaxial hand polydactyly Tetralogy of Fallot Decreased testicular size Dandy-Walker malformation Underdeveloped nasal alae Broad nasal tip Hypoplasia of the maxilla Postaxial polydactyly Coloboma Uterine neoplasm Craniosynostosis Camptodactyly Cleft lip Conductive hearing impairment Hypothyroidism Micropenis Polydactyly Dilatation Microphthalmia Intrauterine growth retardation Brachydactyly Neoplasm of the adrenal cortex Abnormal large intestine morphology Hypohidrosis Sacral dimple Respiratory tract infection Broad forehead Overfolded helix Abnormality of the thorax Cholelithiasis Torticollis Vasculitis Bilateral single transverse palmar creases Aortic valve stenosis Epistaxis Cyanosis Wide intermamillary distance Triangular face Highly arched eyebrow Bilateral elbow dislocations Decreased muscle mass Metacarpophalangeal joint hyperextensibility Broad distal phalanges of all fingers Spatulate thumbs Prominent antitragus Accessory carpal bones Hypertropia Shoulder dislocation Multiple joint dislocation Talipes equinovalgus Knee dislocation Lumbar scoliosis Abnormality of the abdominal wall Endocardial fibroelastosis Proximal placement of thumb Abnormal eyebrow morphology Generalized osteoporosis Juvenile myelomonocytic leukemia Abnormality of the kidney Abnormality of the eye Encephalopathy Depressivity Kyphosis Hypertonia Blindness Intellectual disability, severe Ataxia Abnormality of the subarachnoid space Reduced factor X activity Reduced prothrombin activity Reduced factor XII activity Facial hypotonia Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Arteritis Pulmonary lymphangiectasia Monocytosis Broad toe Prominent fingertip pads Chylothorax Hypochromic microcytic anemia Abnormality of the spleen B-cell lymphoma Hydrocele testis Small face 11 pairs of ribs Abnormality of the outer ear Arachnoid cyst Flexion contracture Recurrent pyelonephritis Hair-pulling Fulminant hepatic failure Hyperorality Cerebellar cortical atrophy Toenail dysplasia Episodic vomiting Periorbital fullness Concave nasal ridge Heat intolerance Bruxism Abnormality of the periventricular white matter Glaucoma Palpebral edema Impaired pain sensation Poor eye contact Weak cry Cellulitis 2-3 toe syndactyly Large hands Polycystic kidney dysplasia Prominent supraorbital ridges Recurrent upper respiratory tract infections Recurrent skin infections Poor head control Increased intracranial pressure Fever Narrow mouth Overlapping fingers Microretrognathia Abnormally large globe Upper limb undergrowth Aortic root aneurysm Narrow nasal bridge Restrictive ventilatory defect Congenital glaucoma Thoracic hypoplasia Bilateral talipes equinovarus Metatarsus adductus Spondyloepiphyseal dysplasia Radioulnar synostosis Patent foramen ovale Sandal gap Elbow flexion contracture Pes planus Meningitis Rhizomelia Amblyopia Left ventricular hypertrophy Abnormal lung morphology Blue sclerae Congenital diaphragmatic hernia Microdontia Short metacarpal Recurrent fractures Arachnodactyly Narrow chest Microtia Agyria


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