Depressed nasal bridge, and Falls

Diseases related with Depressed nasal bridge and Falls

In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Falls that can help you solving undiagnosed cases.


Top matches:

High match LENNOX-GASTAUT SYNDROME


Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ptosis
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about LENNOX-GASTAUT SYNDROME

High match CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1


Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Genetic Heterogeneity of Crisponi/Cold-Induced Sweating SyndromeCrisponi/cold-induced sweating syndrome-2 (CISS2 ), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (OMIM ) on chromosome 11q13. CISS3 (OMIM ) is caused by mutation in the KLHL7 gene (OMIM ) on chromosome 7p15.

CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1 Is also known as crisponi syndrome|sohar-crisponi syndrome|muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1

High match ISOLATED ANIRIDIA


Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.

ISOLATED ANIRIDIA Is also known as an2, formerly|aniridia ii, formerly|an

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED ANIRIDIA

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Other less relevant matches:

High match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


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

High match CARDIOFACIOCUTANEOUS SYNDROME


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

High match MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 Is also known as cms1e, formerly|myasthenic syndrome, congenital, ie, formerly|cms ie, formerly

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11

High match AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY


EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

High match SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION


Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

High match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

High match ROBERTS SYNDROME


Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

ROBERTS SYNDROME Is also known as pseudothalidomide syndrome|roberts-sc phocomelia syndrome|sc pseudothalidomide syndrome|sc phocomelia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROBERTS SYNDROME

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Falls

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Depressed nasal bridge and Falls. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


High forehead Feeding difficulties Micrognathia Short stature Seizures Microcephaly Strabismus Hypertelorism Delayed speech and language development Low-set ears Hypoplasia of the corpus callosum Flexion contracture Cognitive impairment Anteverted nares Macrocephaly Short neck Downslanted palpebral fissures Kyphosis Long philtrum Growth delay Macrotia Clinodactyly Posteriorly rotated ears Thrombocytopenia Intellectual disability, severe Hypermetropia Cataract Polyhydramnios Pectus excavatum Cardiomyopathy Sparse hair Nystagmus Mandibular prognathia Neoplasm Abnormal facial shape Inguinal hernia Feeding difficulties in infancy Postnatal growth retardation Poor suck Hypertonia Respiratory insufficiency Attention deficit hyperactivity disorder Respiratory distress Malar flattening Abnormality of cardiovascular system morphology Micropenis Prominent nasal bridge Congestive heart failure Wide nasal bridge Bilateral ptosis Rigidity Gastroesophageal reflux Aggressive behavior Myocardial infarction Hearing impairment Long face Ataxia Muscular hypotonia Gait disturbance Scoliosis Pain

Rare Symptoms - Less than 30% cases


Splenomegaly Opacification of the corneal stroma Joint hypermobility Astigmatism Pulmonic stenosis Frontal bossing Leukemia Pectus carinatum Intellectual disability, moderate Smooth philtrum Narrow palate Optic nerve hypoplasia Lower limb hypertonia Low-set, posteriorly rotated ears Myopathy Shuffling gait Prominent forehead Thick vermilion border Failure to thrive Atrial septal defect Intrauterine growth retardation Epicanthus Edema Bruising susceptibility Proximal placement of thumb Triangular face Decreased body weight Proptosis Hypertrophic cardiomyopathy Respiratory tract infection Hypotrichosis Ichthyosis High, narrow palate Knee flexion contracture Premature birth Dental malocclusion Hemiparesis Dilated cardiomyopathy Distal lower limb amyotrophy Pes cavus Hemangioma Obesity Midface retrusion Frequent falls Neonatal hypotonia Muscle weakness Multiple cafe-au-lait spots Underdeveloped supraorbital ridges Subvalvular aortic stenosis Autism Clinodactyly of the 5th finger Abnormal bleeding Failure to thrive in infancy Webbed neck Decreased testicular size Low posterior hairline Fine hair Hyperpigmentation of the skin Cafe-au-lait spot Lymphedema Aortic valve stenosis Bilateral single transverse palmar creases Deep philtrum Pleural effusion Hernia Deeply set eye Cubitus valgus Neurodevelopmental delay Babinski sign Facial hypotonia Short attention span Brachydactyly Dysarthria Myopia Ventriculomegaly Hypothyroidism Optic atrophy Interphalangeal joint contracture of finger Highly arched eyebrow Microphthalmia Blindness Tremor Irritability Relative macrocephaly Abnormality of the dentition Tapered finger Short nose Short palm Low hanging columella EEG abnormality Behavioral abnormality Hyperactivity Hyperhidrosis Retrognathia Recurrent urinary tract infections Sudden cardiac death Full cheeks Facial palsy Talipes equinovarus Glaucoma Diabetes mellitus Hypogonadism Spasticity Dysphagia Elbow flexion contracture Apnea Dolichocephaly Intellectual disability, progressive Radial deviation of finger Cyanosis Cleft palate Underdeveloped nasal alae Encephalopathy Cerebral atrophy Dyspnea Phocomelia Ventricular arrhythmia Humeroradial synostosis EMG: myopathic abnormalities Reduced tendon reflexes Respiratory insufficiency due to muscle weakness Scapular winging Bradycardia Progressive muscle weakness Wrist flexion contracture Aplasia of the ulna Palpitations Atrioventricular block Bilateral cryptorchidism Back pain Sprengel anomaly Proximal muscle weakness in lower limbs Distal lower limb muscle weakness Achilles tendon contracture External ear malformation Shoulder girdle muscle weakness Severe intrauterine growth retardation Limb-girdle muscle weakness Proximal amyotrophy Upper limb undergrowth Capillary hemangioma Vocal cord paralysis Progressive proximal muscle weakness Heart block Fair hair Long penis Ankle contracture Rimmed vacuoles Spinal rigidity Abnormality of the upper limb Difficulty climbing stairs Mildly elevated creatine phosphokinase Calf muscle hypertrophy Toe walking Myotonia Congenital muscular dystrophy Patellar aplasia Limb-girdle muscular dystrophy Lipodystrophy Spinal muscular atrophy Facial hemangioma Hypertriglyceridemia Patchy alopecia Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormal location of ears Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Abnormal tricuspid valve morphology Multiple palmar creases Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Cavernous hemangioma Abnormality of hair texture Excessive wrinkled skin Abnormality of the pulmonary artery Hyperextensibility of the finger joints Abnormal aortic valve morphology Thickened helices Abnormality of the auditory canal Eyelid fasciculation Atrial fibrillation Elevated serum creatine phosphokinase Waddling gait Syncope Vertigo Complete duplication of thumb phalanx Lower limb muscle weakness Limb muscle weakness Absent earlobe Progressive flexion contractures Muscular dystrophy Joint stiffness Hyperlordosis Proximal muscle weakness Difficulty walking Mesomelic arm shortening Arrhythmia Multiple plantar creases Tetraphocomelia Skeletal muscle atrophy Fatigable weakness Weak cry Prominent occiput Multiple joint contractures Gowers sign Easy fatigability Narrow palpebral fissure Midface capillary hemangioma Decreased fetal movement Generalized muscle weakness Arthrogryposis multiplex congenita Oral aversion Synostosis of carpal bones Ventricular escape rhythm Supraventricular arrhythmia Anemia Dysmetria Synophrys Small for gestational age Short philtrum Abnormal pyramidal sign Retinopathy Cortical gyral simplification Severe short stature Recurrent infections Immunodeficiency Truncal obesity Peripheral neuropathy Sensorineural hearing impairment Polyneuropathy Talipes calcaneovarus Small forehead Low frustration tolerance Long nose Cerebellar vermis atrophy Abnormality of lipid metabolism Increased circulating gonadotropin level Alopecia areata Diastema Abnormal mitral valve morphology Misalignment of teeth Chronic lung disease Sensory neuropathy Broad nasal tip Multinodular goiter Insulin resistance Postural tremor Sensory axonal neuropathy Dysdiadochokinesis Slurred speech High pitched voice Goiter Leukopenia Acanthosis nigricans Short chin Bone marrow hypocellularity Hypergonadotropic hypogonadism Lymphopenia Abnormal lung morphology Progressive cerebellar ataxia Broad-based gait Cutaneous photosensitivity Renal hypoplasia Epidermal acanthosis Ectopic kidney Apraxia Hypotelorism Sloping forehead Bradykinesia Pigmentary retinopathy Limb undergrowth Convex nasal ridge Renal agenesis Glioma Gastrointestinal stroma tumor Abnormal atrioventricular conduction Proximal spinal muscular atrophy Clitoral hypertrophy Short femoral neck Thin upper lip vermilion Upslanted palpebral fissure Absent thumb Aplasia/Hypoplasia of the thumb Absent speech Hip contracture Hyperreflexia Absent muscle fiber emerin Restricted neck movement due to contractures Decreased cervical spine flexion due to contractures of posterior cervical muscles Type 1 muscle fiber atrophy Radioulnar synostosis Proximal upper limb amyotrophy Scapuloperoneal amyotrophy Unilateral renal agenesis Peroneal muscle weakness Left anterior fascicular block Limb-girdle muscle atrophy Proximal muscle weakness in upper limbs Proximal lower limb amyotrophy Peroneal muscle atrophy Shoulder girdle muscle atrophy Atrial arrhythmia Absent radius Increased LDL cholesterol concentration Protruding ear Camptodactyly of finger Long neck Progressive spastic paraplegia Intellectual disability, mild Dilatation Brachycephaly Paralysis Craniosynostosis Corneal opacity Furrowed tongue Finger syndactyly Cleft upper lip Chest pain Restlessness Blue sclerae Bowing of the long bones Spastic paraplegia Short thumb Lower limb hyperreflexia Wormian bones Sandal gap Large hands Hypoplasia of the maxilla Short foot Short distal phalanx of finger Paraplegia Melanoma Hypoplasia of the radius Poor speech Polycystic kidney dysplasia Slow-growing hair Palmoplantar keratoderma Gastrointestinal dysmotility Ectopia lentis Ectopia pupillae Action tremor Hypoplasia of the fovea Hand tremor Hypoplasia of the iris Limb hypertonia Aniridia Hypopituitarism Adrenal insufficiency Albinism Anophthalmia Nephroblastoma Anosmia Peters anomaly Type I diabetes mellitus Exotropia Amblyopia Dental crowding Renal dysplasia Choanal atresia Dandy-Walker malformation Microcornea Hypopigmentation of the skin Retinal detachment Polymicrogyria Arachnodactyly Congenital cataract Hyposmia Decreased light- and dark-adapted electroretinogram amplitude Muscular hypotonia of the trunk Joint laxity Bicuspid aortic valve Torticollis Vasculitis Hydrops fetalis Mitral regurgitation Epistaxis Hip dysplasia Wide intermamillary distance Esotropia Lymphoma Ascites Abnormality of the foot Broad forehead Hepatosplenomegaly Ocular pain Hypertension Motor delay Increased proinsulin:insulin ratio Hypoplasia of the antihelix Aplasia/Hypoplasia of the macula Lumbar kyphosis Aphakia Central adrenal insufficiency Vascular tortuosity Macular hypoplasia Retinal vascular tortuosity Central hypothyroidism Abnormal glucose tolerance Coloboma Reduced visual acuity Abnormality of the thorax Abnormality of brainstem morphology Blepharophimosis Camptodactyly Pes planus Kyphoscoliosis Narrow mouth Hyporeflexia Renal insufficiency Fever EEG with focal sharp slow waves CNS infection Frontotemporal cerebral atrophy Atypical absence seizures Personality disorder Generalized tonic seizures Wide nose Enlarged cisterna magna Abnormality of the periventricular white matter Atonic seizures Tented upper lip vermilion Gingival overgrowth Epileptic encephalopathy Focal-onset seizure Generalized myoclonic seizures Generalized tonic-clonic seizures Autistic behavior Mental deterioration Myoclonus Recurrent respiratory infections Carious teeth Limitation of joint mobility Gait ataxia Trismus Agenesis of corpus callosum Visual loss Cold-induced sweating Facial tics Smooth tongue Hypernatremic dehydration Bilateral camptodactyly Unexplained fevers Hypopnea Temperature instability Velopharyngeal insufficiency Large face Central apnea Narrow nose Round face Malignant hyperthermia Episodic fever Acute kidney injury Limited elbow extension Opisthotonus Disproportionate tall stature Overlapping toe Keratitis Nasal speech Adducted thumb Hypohidrosis Generalized-onset seizure Dehydration Cholelithiasis Overfolded helix Deep palmar crease Hyperextensible skin Malnutrition Open bite Large for gestational age Absent eyebrow Obsessive-compulsive behavior Heart murmur Chronic otitis media Melanocytic nevus Ectropion Scaling skin Sparse eyebrow Brittle hair Redundant skin Abnormality of vision Aplasia/Hypoplasia of the eyebrow Palmoplantar hyperkeratosis Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Cutis laxa Oculomotor apraxia Sparse eyelashes Abnormality of the nail Aspiration Cerebral visual impairment Thickened skin Hydroureter Neurofibromas Inflammatory abnormality of the skin Absent eyelashes Abnormality of refraction Abnormal myocardium morphology Delayed CNS myelination Abnormality of the testis Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Thick upper lip vermilion Woolly hair Abnormality of the gastrointestinal tract Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Enlarged kidney Infantile spasms Arnold-Chiari type I malformation Abnormal eyelash morphology Alopecia of scalp Atopic dermatitis Poor appetite Anal stenosis Submucous cleft hard palate Generalized hyperpigmentation Curly hair Biparietal narrowing Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Open mouth Coarctation of aorta Decreased muscle mass Reduced factor XII activity Alopecia Constipation Delayed skeletal maturation Abnormal heart morphology Depressivity Vomiting Hydrocephalus Ventricular septal defect Hepatomegaly Abnormality of the subarachnoid space Reduced factor X activity Reduced prothrombin activity Juvenile myelomonocytic leukemia Hypoplasia of olfactory tract Hyperkeratosis 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 Abnormal eyebrow morphology Cerebral cortical atrophy Osteopenia Cardiomegaly Peripheral axonal neuropathy Narrow forehead Abnormality of the cardiovascular system Progressive visual loss Growth hormone deficiency Intestinal malrotation Vesicoureteral reflux Nevus Abdominal distention Sleep disturbance Hepatic steatosis Retinal dystrophy Bulbous nose Abnormality of skin pigmentation Dry skin Coarse facial features Genu valgum Abnormality of the cerebral white matter Nail dystrophy Pruritus Neurological speech impairment Abnormal cardiac septum morphology Scarring Erythema Abnormality of the kidney Abnormality of the eye Telecanthus Hydronephrosis Umbilical hernia Premature separation of centromeric heterochromatin



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Esotropia, related diseases and genetic alterations Ventricular septal defect and Situs inversus totalis, related diseases and genetic alterations Autoimmunity and Generalized muscle weakness, related diseases and genetic alterations Congestive heart failure and Photophobia, related diseases and genetic alterations Hyperreflexia and Bone marrow hypocellularity, related diseases and genetic alterations Leukemia and Polydactyly, related diseases and genetic alterations Myopathy and Open mouth, related diseases and genetic alterations

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