Wide nasal bridge, and Nail dystrophy

Diseases related with Wide nasal bridge and Nail dystrophy

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

Top matches:

High match ADULT SYNDROME

ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.

ADULT SYNDROME Is also known as acrodermatounguallacrimaltooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome|acro-dermato-ungual-lacrimal-tooth syndrome

Related symptoms:

  • Brachydactyly
  • Wide nasal bridge
  • Abnormality of the dentition
  • Syndactyly
  • Midface retrusion


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ADULT SYNDROME

Autosomal dominant hyper-IgE syndrome (AD-HIES) is a very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.

AUTOSOMAL DOMINANT HYPER-IGE SYNDROME Is also known as autosomal dominant hyperimmunoglobulin e syndrome|hyperimmunoglobulin e syndrome type 1|ad-hies|buckley syndrome|stat3 deficiency|job syndrome|hyperimmunoglobulin e-recurrent infection syndrome|autosomal dominant hies

Related symptoms:

  • Scoliosis
  • Cleft palate
  • Wide nasal bridge
  • Fever
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPER-IGE SYNDROME

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

Other less relevant matches:

Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

ZLOTOGORA-OGUR SYNDROME Is also known as cleft lip/palate-ectodermal dysplasia syndrome|clped1|ed4|syndactyly-ectodermal dysplasia-cleft/lip palate|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia, margarita island type|ectodermal dysplasia, cleft lip and palate, mental retar

Related symptoms:

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Cleft palate
  • Wide nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZLOTOGORA-OGUR SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ROSSELLI-GULIENETTI SYNDROME

RAPP-HODGKIN SYNDROME; RHS Is also known as ectodermal dysplasia, anhidrotic, with cleft lip/palate

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about RAPP-HODGKIN SYNDROME; RHS

ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE Is also known as hay-wells syndrome|aec syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Cleft palate
  • Pain


SOURCES: OMIM MESH MENDELIAN

More info about ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

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

Top 5 symptoms//phenotypes associated to Wide nasal bridge and Nail dystrophy

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Syndactyly Common - Between 50% and 80% cases
Midface retrusion Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Wide nasal bridge and Nail dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Abnormality of the dentition Malar flattening Nail dysplasia Ectodermal dysplasia Micrognathia Hypodontia Short stature Toe syndactyly Brachydactyly Sparse hair Hypohidrosis Sparse eyelashes Recurrent respiratory infections Cleft upper lip Global developmental delay Dystrophic fingernails Cleft lip Hypertelorism Low-set ears Depressed nasal bridge Downslanted palpebral fissures Pili torti Narrow mouth Hypotrichosis Alopecia Microdontia Finger syndactyly Oral cleft Microcephaly Hypogonadism High forehead Dystrophic toenail Abnormality of dental enamel Anodontia Ptosis Wide intermamillary distance Scrotal hypoplasia Sparse scalp hair Sparse and thin eyebrow Protruding ear Camptodactyly Sensorineural hearing impairment Hypospadias Ectrodactyly Microtia Clinodactyly Abnormality of dental morphology Conductive hearing impairment Short nose Fine hair Widely spaced teeth Epicanthus Clinodactyly of the 5th finger Small nail

Rare Symptoms - Less than 30% cases

Anteverted nares Thin upper lip vermilion Growth delay Hyperlordosis Flat face Tapered finger Neurological speech impairment Abnormality of the kidney Mild short stature EEG abnormality Macrotia Tented upper lip vermilion Wide mouth Short distal phalanx of finger Coarse facial features Anonychia Carious teeth Progressive hypotrichosis Abnormality of the nervous system Micropenis Feeding difficulties Hyperconvex nail Selective tooth agenesis Cystic renal dysplasia Conical tooth Supernumerary nipple Recurrent otitis media Bifid uvula Hypoplasia of the maxilla Palmoplantar keratoderma Ventricular septal defect Anhidrosis Abnormality of the philtrum Synophrys Generalized hypotonia Sparse lateral eyebrow Bilateral cleft lip and palate Abnormality of the ureter High palate Cutaneous finger syndactyly Abnormality of the ear Brittle hair Palmoplantar hyperkeratosis Abnormal dermatoglyphics Increased body weight Bilateral single transverse palmar creases Optic atrophy Highly arched eyebrow Cutaneous syndactyly of toes Ankyloblepharon Thin skin Hyperhidrosis Split hand Abnormal facial shape Cataract Conjunctivitis Inflammatory abnormality of the skin Delayed eruption of teeth Oligodontia Lacrimal duct atresia Eczema Finger clinodactyly Intellectual disability, mild Abnormality of the face Long philtrum Cerebral atrophy Posteriorly rotated ears Skin ulcer Scoliosis Upslanted palpebral fissure Elbow dislocation Mandibular prognathia Abnormality of the metacarpal bones Prominent supraorbital ridges Abnormality of the genitourinary system Sandal gap Coxa valga Congenital hip dislocation Proximal placement of thumb Dislocated radial head Broad hallux Bifid tongue Abnormal vertebral segmentation and fusion Hypoplastic frontal sinuses Absent frontal sinuses Short 5th metacarpal Delayed closure of the anterior fontanelle Broad face Short 4th metacarpal Thoracic hypoplasia Short hallux Synostosis of carpal bones Short thumb Thickened calvaria Limited elbow extension Prominent occiput Increased bone mineral density Broad forehead Broad thumb Triphalangeal thumb Prominent nasal bridge Downturned corners of mouth Everted lower lip vermilion Polyneuropathy Prominent nose Abnormality of the skin Renal agenesis Dandy-Walker malformation Bilateral sensorineural hearing impairment High myopia Hypsarrhythmia Short phalanx of finger Abnormality of the fingernails Infantile spasms Bowing of the long bones Severe sensorineural hearing impairment Hypoplasia of the iris Prominent nasal tip Profound sensorineural hearing impairment Frontal bossing Abnormality of the skeletal system Pectus excavatum Severe short stature Skeletal dysplasia Short 3rd metacarpal Hip dislocation Short palm Limitation of joint mobility Omphalocele Multiple impacted teeth Limited knee flexion Capitate-hamate fusion External genital hypoplasia Decreased testicular size Narrow forehead Renal hypoplasia Thick lower lip vermilion Open mouth Abnormality of the genital system Exotropia Narrow face Intellectual disability, progressive Drooling Infantile muscular hypotonia Encephalitis Radial deviation of finger Bilateral cryptorchidism Slender finger Macroglossia Talipes calcaneovalgus Overjet Paroxysmal bursts of laughter Alternating exotropia Hypoplastic philtrum Equinovarus deformity Widely-spaced maxillary central incisors Bilateral renal hypoplasia Abnormality of blood and blood-forming tissues U-Shaped upper lip vermilion Short upper lip Lower limb hypertonia Asplenia Facial hypotonia Protruding tongue Vesicoureteral reflux Thick vermilion border Broad distal phalanx of the thumb Long second metacarpal Short neck Talipes equinovarus Hyperreflexia Spasticity Cryptorchidism Abnormality of the fifth metatarsal bone Lateral femoral bowing Vomiting Bulbous tips of toes Thick skull base Anal atresia Abnormality of the tarsal bones Accessory carpal bones Bipartite calcaneus Intellectual disability, severe Hypertonia Thick eyebrow Pes planus Paraplegia Genu valgum Abnormality of the foot Spastic paraplegia Dolichocephaly Telecanthus Kyphoscoliosis Obesity Gastroesophageal reflux Cerebral cortical atrophy Hyperactivity Pneumonia Constipation Delayed skeletal maturation Bulbous nose Peripheral neuropathy Respiratory tract infection Anteverted ears Prominent forehead Recurrent infections Bilateral cleft lip Hypoplasia of the zygomatic bone Dilatation Fever Adermatoglyphia Premature loss of permanent teeth Conical incisor Nail pits Pterygium Scaling skin Lacrimal duct stenosis Fingernail dysplasia Aplasia/Hypoplasia of the eyebrow Toenail dysplasia Nasolacrimal duct obstruction Pulmonary hypoplasia Breast hypoplasia Absent nipple Sparse axillary hair Underdeveloped nasal alae Generalized hypopigmentation Fair hair Renal dysplasia Split foot Coarse hair Abnormality of the voice Alopecia of scalp Osteopenia Deeply set eye Submucous cleft hard palate Atelectasis Congenital cataract Smooth philtrum Thin vermilion border Radioulnar synostosis Delayed cranial suture closure Pericarditis Arnold-Chiari type I malformation Shallow orbits Broad philtrum Broad eyebrow Craniofacial asymmetry Generalized abnormality of skin Paronychia Increased IgE level Gingivitis Craniosynostosis Cellulitis Skin vesicle Osteomyelitis Chronic otitis media Eosinophilia Abnormality of the hair Lymphoma Triangular face Recurrent fractures Joint hyperflexibility Pruritus Papule Cough Skin rash Non-midline cleft lip Generalized hyperpigmentation Neonatal hypotonia Patchy alopecia Agenesis of permanent teeth Sparse body hair Keratoconjunctivitis sicca Pustule Blepharitis Absent eyelashes Chronic sinusitis Trismus Heat intolerance Skin erosion Plantar hyperkeratosis Orthokeratosis Oval face Bilateral choanal atresia Hammertoe 3-4 toe syndactyly Fibrous syngnathia Vaginal dryness Otitis externa Muscular hypotonia Delayed speech and language development Brachycephaly Myopia Cutaneous photosensitivity Respiratory distress Blindness Abnormal heart morphology Hyporeflexia Dry skin 2-3 toe syndactyly Erythroderma Narrow nose Submucous cleft soft palate Hypoplastic labia majora Hypoplastic nipples Thick nail Dry hair Freckling Anhidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia Melanocytic nevus Dermal atrophy Velopharyngeal insufficiency Trichodysplasia Hyperconvex fingernails Absent lacrimal punctum Pili canaliculi Small, conical teeth Atresia of the external auditory canal Progressive alopecia Decreased number of sweat glands Failure to thrive Pain Patent ductus arteriosus Hyperkeratosis Scarring Sepsis Otitis media Choanal atresia Hyperpigmentation of the skin Sinusitis Hoarse voice Abnormality of the nail Triangular nasal tip


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