Hypertelorism, and Nail dystrophy

Diseases related with Hypertelorism and Nail dystrophy

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

Top matches:

Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.

JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT Is also known as jeb-rr|jeb with respiratory and renal involvement|congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome|congenital ilneb syndrome|conge

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Muscular hypotonia
  • Fever
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT

Ayme-Gripp syndrome is a clinically homogeneous phenotype characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth (Niceta et al., 2015).

AYME-GRIPP SYNDROME; AYGRP Is also known as cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AYME-GRIPP SYNDROME; AYGRP

Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.

POIKILODERMA WITH NEUTROPENIA Is also known as poikiloderma with neutropenia, clericuzio type|poikiloderma with neutropenia, clericuzio-type

Related symptoms:

  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about POIKILODERMA WITH NEUTROPENIA

Other less relevant matches:

Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as digitorenocerebral syndrome|eronen syndrome|drc syndrome|door syndrome|brachydactyly due to absence of distal phalanges

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

Otopalatodigital syndrome-1 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include frontometaphyseal dysplasia (FMD1 ), otopalatodigital syndrome-2 (OPD2 ), and Melnick-Needles syndrome (MNS ), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD is characterized by a generalized skeletal dysplasia, deafness and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by Robertson, 2005). Verloes et al. (2000) suggested that these disorders constitute a single entity, which they termed 'frontootopalatodigital osteodysplasia.'

OTOPALATODIGITAL SYNDROME, TYPE I; OPD1 Is also known as opd syndrome 1|opd i syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTOPALATODIGITAL SYNDROME, TYPE I; OPD1

The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Is also known as smith-fineman-myers syndrome 1|chudley-lowry syndrome|holmes-gang syndrome|mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|xlmr-hypotonic facies syndrome|carpenter-waziri syndrome|sfms|sfm1|jms|juberg-marsidi syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

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

Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.

ACROFACIAL DYSOSTOSIS, WEYERS TYPE Is also known as weyers acrodental dysostosis|acrodental dysostosis of weyers|weyers acrofacial dysostosis|curry-hall syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Brachydactyly
  • Abnormality of the dentition
  • Clinodactyly of the 5th finger


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACROFACIAL DYSOSTOSIS, WEYERS TYPE

Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.

AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME Is also known as ddod syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Nail dystrophy

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hypertelorism and Nail dystrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Brachydactyly

Uncommon Symptoms - Between 30% and 50% cases

Midface retrusion Short nose Malar flattening Low-set ears Abnormality of the dentition Wide nasal bridge Epicanthus High forehead Cataract Abnormal facial shape Sensorineural hearing impairment Nail dysplasia Frontal bossing Clinodactyly of the 5th finger Global developmental delay Microcephaly Micrognathia Respiratory tract infection Recurrent respiratory infections Short distal phalanx of finger Downslanted palpebral fissures Narrow mouth Long philtrum Cerebral atrophy Posteriorly rotated ears Small nail Mandibular prognathia Coarse facial features Ptosis Tapered finger Anteverted nares Mild short stature Optic atrophy High palate Generalized hypotonia Genu valgum Muscular hypotonia Cleft palate Scoliosis Pneumonia Dolichocephaly Growth delay

Rare Symptoms - Less than 30% cases

Hypoplasia of the zygomatic bone Toe syndactyly Short palm Myopia Delayed speech and language development Feeding difficulties Oligodontia Abnormality of the genitourinary system Dystrophic fingernails Conical tooth Open bite Blindness Chronic otitis media Abnormality of the metacarpal bones Sleep apnea High, narrow palate Selective tooth agenesis Broad forehead Skeletal dysplasia Cryptorchidism Macrocephaly Short neck Severe short stature Abnormal heart morphology Clinodactyly Hypertonia Thick vermilion border Telecanthus Vesicoureteral reflux Narrow forehead Pes planus Cerebral cortical atrophy Triphalangeal thumb Open mouth Constipation Delayed skeletal maturation Intellectual disability, severe Abnormality of the kidney Anonychia Abnormality of the fingernails Infantile spasms Severe sensorineural hearing impairment Joint hypermobility Bilateral sensorineural hearing impairment Hypotelorism Bulbous nose Wide mouth Pectus excavatum Vomiting Gastroesophageal reflux Arnold-Chiari type I malformation Thin upper lip vermilion Alopecia Intellectual disability, mild Upslanted palpebral fissure Splenomegaly Brachycephaly Sparse eyelashes Recurrent pneumonia Hyperkeratosis Prominent forehead Macrotia Sparse scalp hair Erythema Microtia Fine hair Narrow chest Flat face Respiratory distress Palmoplantar keratoderma Tented upper lip vermilion Carious teeth Myocardial infarction Scaling skin Thickened skin Decreased body weight Pleural effusion Inflammatory abnormality of the skin Hemiparesis Ectropion Melanocytic nevus Bilateral ptosis Low posterior hairline Cubitus valgus Heart murmur Coarctation of aorta Obsessive-compulsive behavior Cardiomegaly Abnormality of the cardiovascular system Absent eyebrow Progressive visual loss Growth hormone deficiency Sparse eyebrow Poor suck Cafe-au-lait spot Oculomotor apraxia Abnormality of vision Palmoplantar hyperkeratosis Optic nerve hypoplasia Delayed gross motor development Hemangioma Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Cutis laxa Narrow palate Relative macrocephaly Abnormality of the nail Hyperextensible skin Aspiration Deep philtrum Cerebral visual impairment Hyperpigmentation of the skin Redundant skin Lymphedema Brittle hair Failure to thrive in infancy Conjunctivitis Webbed neck Umbilical hernia Scarring Sparse hair Irritability Feeding difficulties in infancy Abnormality of the eye Low-set, posteriorly rotated ears Hypertrophic cardiomyopathy Aggressive behavior Hydronephrosis EEG abnormality Osteopenia Pectus carinatum Polyhydramnios Proptosis Autism Hyperhidrosis Inguinal hernia Encephalopathy Depressivity Hernia Thrombocytopenia Abnormality of cardiovascular system morphology Kyphosis Abnormal cardiac septum morphology Leukemia Dental malocclusion Falls Premature birth Malnutrition Intestinal malrotation Nevus Full cheeks Abnormal bleeding Abdominal distention Sleep disturbance Hepatic steatosis Retinal dystrophy Bruising susceptibility Renal insufficiency Neurological speech impairment Long face Abnormality of skin pigmentation Peripheral axonal neuropathy Ichthyosis Dry skin Astigmatism Pulmonic stenosis Hypotrichosis Hypermetropia Abnormality of the cerebral white matter Pruritus Large for gestational age Multiple cafe-au-lait spots Hydroureter Multiple plantar creases Hypoplastic toenails Postaxial hand polydactyly Limb undergrowth Hypodontia Small hand Postaxial polydactyly Anal atresia Protruding ear Polydactyly Oral aversion Eyelid fasciculation Postaxial foot polydactyly 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 Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Facial cleft Abnormality of the antihelix Generalized ichthyosis Reduced number of teeth Hidrotic ectodermal dysplasia Absent toenail Anhidrotic ectodermal dysplasia Hypoplasia of teeth High-frequency hearing impairment Aplasia cutis congenita Abnormality of digit Agenesis of permanent teeth Congenital sensorineural hearing impairment Abnormality of the hand Gingival overgrowth Abnormal toenail morphology Hypertrichosis Ectodermal dysplasia Deeply set eye Prominent antihelix Abnormal oral frenulum morphology Single median maxillary incisor Toenail dysplasia Advanced eruption of teeth Fever Overlapping fingers Thoracic dysplasia Laryngeal cleft Hypoplasia of the frontal lobes Aplasia/Hypoplasia of the eyebrow Poor appetite Woolly hair Short attention span Abnormality of the gastrointestinal tract Abnormality of the ulna Premature skin wrinkling Absent eyelashes Enlarged kidney Abnormal eyelash morphology Alopecia of scalp Atopic dermatitis Underdeveloped supraorbital ridges Abnormal hair pattern Anal stenosis Submucous cleft hard palate Generalized hyperpigmentation Curly hair Biparietal narrowing Congestive heart failure Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Neurofibromas Neurodevelopmental delay Thick upper lip vermilion Abnormality of the optic nerve Optic nerve dysplasia Excessive wrinkled skin Patchy alopecia Abnormal tricuspid valve morphology 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 Abnormality of the pulmonary artery Abnormality of the testis Hyperextensibility of the finger joints Abnormal aortic valve morphology Subvalvular aortic stenosis Thickened helices Slow-growing hair Abnormal mitral valve morphology Gastrointestinal dysmotility Deep palmar crease Abnormality of refraction Abnormal myocardium morphology Delayed CNS myelination Behavioral abnormality Neoplasm Edema Everted lower lip vermilion Abnormal dermatoglyphics Short phalanx of finger Hypsarrhythmia High myopia Dandy-Walker malformation Renal agenesis Abnormality of the skin Camptodactyly Prominent nose Polyneuropathy Downturned corners of mouth Respiratory acidosis Congenital cataract Smooth philtrum Abnormality of the nervous system Neonatal hypotonia Thin vermilion border Hyporeflexia Radioulnar synostosis Delayed cranial suture closure Pericarditis Peripheral neuropathy Junctional split Crossed fused renal ectopia Broad philtrum Interstitial pulmonary abnormality Coxa valga Congenital hip dislocation Increased bone mineral density Short thumb Broad thumb Bowing of the long bones Omphalocele Limitation of joint mobility Bifid uvula Ectopic kidney Hip dislocation Hypoplasia of the iris Conductive hearing impairment Fragile skin Tubular atrophy Onycholysis Syndactyly Abnormality of the skeletal system Decreased glomerular filtration rate Profound sensorineural hearing impairment Prominent nasal tip Cystic renal dysplasia Shallow orbits Broad eyebrow Sandal gap Asthma Sinusitis Abnormality of epiphysis morphology Large fontanelles Abnormality of the ribs Sloping forehead Recurrent fractures Delayed eruption of teeth Cough Neutropenia Osteoporosis Otitis media Hemivertebrae Eczema Cutaneous photosensitivity Recurrent otitis media Subungual hyperkeratosis Poikiloderma Osteosarcoma Blepharitis Wheezing Atrophic scars Increased antibody level in blood Wormian bones Abnormality of dental enamel Neck muscle hypoplasia Dystrophic toenail Cervical segmentation defect Short face Shoulder muscle hypoplasia Hypoplastic inferior ilia Rib segmentation abnormalities Cervical C2/C3 vertebral fusion Abnormal sacrum morphology Dimple chin Abnormality of the thumb Craniofacial asymmetry Decreased skull ossification Coxa vara Hypoplastic scapulae Down-sloping shoulders Hearing abnormality Glossoptosis Sprengel anomaly Short clavicles Increased number of teeth Respiratory failure Abnormality of pelvic girdle bone morphology Skin rash Spina bifida occulta Finger clinodactyly Focal segmental glomerulosclerosis Atrial septal defect Intellectual disability, progressive Abnormality of blood and blood-forming tissues Slender finger External genital hypoplasia Bilateral cryptorchidism Radial deviation of finger Encephalitis Scrotal hypoplasia Infantile muscular hypotonia Drooling Widely spaced teeth Increased body weight Facial hypotonia Narrow face Exotropia Abnormality of the genital system Thick lower lip vermilion Renal hypoplasia Decreased testicular size Proteinuria Macroglossia Thick eyebrow Paraplegia Protruding tongue Asplenia Spastic paraplegia Nystagmus Cardiomyopathy Hydrocephalus Ventriculomegaly Ventricular septal defect Dysphagia Dysarthria Hepatomegaly Strabismus Failure to thrive Myelodysplasia Ataxia Lower limb hypertonia Triangular nasal tip Overjet Paroxysmal bursts of laughter Alternating exotropia Hypoplastic philtrum Equinovarus deformity Widely-spaced maxillary central incisors Talipes calcaneovalgus Bilateral renal hypoplasia U-Shaped upper lip vermilion Short upper lip Abnormality of the foot Round face Neonatal respiratory distress Short hallux Multiple impacted teeth Abnormal vertebral segmentation and fusion Hypoplastic frontal sinuses Absent frontal sinuses Glomerulosclerosis Short 5th metacarpal Delayed closure of the anterior fontanelle Broad face Bifid tongue Short 4th metacarpal Anodontia Capitate-hamate fusion Synostosis of carpal bones Dislocated radial head Thickened calvaria Limited elbow extension Prominent occiput Thoracic hypoplasia Broad hallux Proximal placement of thumb Elbow dislocation Prominent supraorbital ridges Short 3rd metacarpal Broad distal phalanx of the thumb Abnormal blistering of the skin Gynecomastia Cyanosis Kyphoscoliosis Nephrotic syndrome Micropenis Hyperactivity Hypogonadism Abnormal lung morphology Hypospadias Obesity Sparse and thin eyebrow Talipes equinovarus Bipartite calcaneus Hyperreflexia Spasticity Hypoalbuminemia Abnormality of the fifth metatarsal bone Long second metacarpal Lateral femoral bowing Bulbous tips of toes Thick skull base Limited knee flexion Abnormality of the tarsal bones Accessory carpal bones Bilateral triphalangeal thumbs


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Ectodermal dysplasia, related diseases and genetic alterations Congestive heart failure and Dysphagia, related diseases and genetic alterations Depressed nasal bridge and Low posterior hairline, related diseases and genetic alterations Edema and Growth hormone deficiency, related diseases and genetic alterations Spasticity and Ichthyosis, related diseases and genetic alterations