Depressed nasal bridge, and Finger syndactyly

Diseases related with Depressed nasal bridge and Finger syndactyly

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


Top matches:

Medium match PFEIFFER SYNDROME TYPE 1


Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.

PFEIFFER SYNDROME TYPE 1 Is also known as classic pfeiffer syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Low-set ears
  • High palate
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 1

Medium match CHITAYAT SYNDROME; CHYTS


Chitayat syndrome is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017).

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about CHITAYAT SYNDROME; CHYTS

Medium match MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME


Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

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Other less relevant matches:

Medium match AMYOTROPHY, HEREDITARY NEURALGIC; HNA


Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

Medium match PFEIFFER SYNDROME TYPE 2


Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 2

Medium match SCLEROSTEOSIS


Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.

SCLEROSTEOSIS Is also known as cortical hyperostosis-syndactyly syndrome|sost|cortical hyperostosis with syndactyly

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCLEROSTEOSIS

Medium match PFEIFFER SYNDROME TYPE 3


Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 3

Medium match FRASER SYNDROME


Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.

FRASER SYNDROME Is also known as cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Cryptorchidism
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRASER SYNDROME

Medium match RAPP-HODGKIN SYNDROME; RHS


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

Medium match SCALP-EAR-NIPPLE SYNDROME


Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cataract
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SCALP-EAR-NIPPLE SYNDROME

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Finger syndactyly

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Proptosis Uncommon - Between 30% and 50% cases
Toe syndactyly Uncommon - Between 30% and 50% cases
High forehead Uncommon - Between 30% and 50% cases
Syndactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Midface retrusion Cleft palate Respiratory distress High palate Broad thumb Intellectual disability Hearing impairment Ptosis Arnold-Chiari malformation Wide nasal bridge Global developmental delay Tracheomalacia Anal atresia Increased intracranial pressure Abnormal facial shape Hallux varus Short nose Short foot Short hallux Aqueductal stenosis Broad hallux phalanx

Rare Symptoms - Less than 30% cases


Cleft upper lip Facial asymmetry Optic atrophy Seizures Frontal bossing Hypohidrosis Hydrocephalus Abnormality of cardiovascular system morphology Deeply set eye Generalized hypotonia Epicanthus Hyperhidrosis Mandibular prognathia Protruding ear Sparse hair Renal hypoplasia Delayed eruption of teeth Fine hair Cutaneous syndactyly Anteverted nares Dental malocclusion Visual loss Short stature Pulmonary hypoplasia Blepharophimosis Bifid uvula Intestinal malrotation Nail dysplasia Limitation of joint mobility Underdeveloped nasal alae Laryngomalacia Vesicoureteral reflux Narrow palpebral fissure Hypotelorism Paralysis Malar flattening Short columella Atresia of the external auditory canal Hypospadias Narrow mouth Small hand Conductive hearing impairment Choanal atresia Thin skin Coarse hair Recurrent otitis media Renal dysplasia Widely spaced teeth Sparse and thin eyebrow Sparse eyelashes Abnormality of dental enamel Midline nasal groove Small nail Ectopic anus Subglottic stenosis Abnormal vagina morphology Vaginal atresia Bicornuate uterus Abnormal hair pattern Bifid tongue Calvarial skull defect Abnormality of the middle ear Tracheal stenosis Myelomeningocele Abnormal lung lobation External ear malformation Anal stenosis Vertebral segmentation defect Anophthalmia Laryngeal stenosis Female pseudohermaphroditism Ectodermal dysplasia Clinodactyly of the 5th finger Hypodontia Hypoplasia of the maxilla Palmoplantar keratoderma Hypotrichosis Cleft lip Alopecia Ventricular septal defect Urethral atresia Micrognathia Malformed lacrimal duct Supernumerary nipple Lacrimal duct aplasia Wide pubic symphysis Cleft ala nasi Cryptophthalmos Abnormality of the voice Ankyloblepharon Non-midline cleft lip Abnormality of the thorax Aplasia cutis congenita Narrow nasal bridge Multiple lipomas Agenesis of permanent teeth 2-3 toe syndactyly Cupped ear Abnormality of the urinary system Palpebral edema Abnormality of the fingernails Type I diabetes mellitus Abnormality of the nail Abnormality of the hair Recurrent urinary tract infections Renal agenesis Abnormality of the skin Hypoplastic nipples Abnormality of the antihelix Dry skin Bilateral renal hypoplasia Abnormality of the scalp Underdeveloped antitragus 3-4 finger cutaneous syndactyly Underdeveloped tragus Bilateral camptodactyly Hypoplastic helices Breast aplasia Eyelid coloboma Small earlobe Aplasia cutis congenita of scalp Pyelonephritis Ureteral duplication Absent nipple Aplasia/Hypoplasia of the nipples Abnormality of the endocrine system Iris coloboma Congenital cataract Ectrodactyly Thick nail Hyperconvex nail Multicystic kidney dysplasia Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Cystic renal dysplasia Dry hair Conical tooth Trichodysplasia Dystrophic fingernails Pili torti Dystrophic toenail Hypoplastic labia majora Narrow nose Generalized hyperpigmentation Submucous cleft hard palate Velopharyngeal insufficiency Hyperconvex fingernails Nail dystrophy Abnormality of the dentition Microtia Coloboma Abnormality of the pinna Abnormality of the kidney Camptodactyly Telecanthus Renal insufficiency Myopia Absent lacrimal punctum Hypertension Cataract Decreased number of sweat glands Progressive alopecia Small, conical teeth Submucous cleft soft palate Pili canaliculi Scrotal hypoplasia Esodeviation Dental crowding Visceral angiomatosis Wide mouth Joint hyperflexibility Polymicrogyria Full cheeks Hand polydactyly Aplasia/Hypoplasia of the cerebellum Cutis marmorata Hypermelanotic macule Telangiectasia of the skin Foot polydactyly Nevus flammeus Arteriovenous malformation Cerebral ischemia Abnormality of nervous system morphology Ventriculomegaly Asymmetric growth Muscle weakness Pain Flexion contracture Peripheral neuropathy Skeletal muscle atrophy Fatigue Abnormality of the skeletal system Edema Depressivity Hyporeflexia Upslanted palpebral fissure Rigidity Arrhythmia Macrocephaly Paresthesia Abnormality of the foot Brachycephaly Short palm Aplasia/Hypoplasia of the thumb Bicoronal synostosis Brachydactyly Long philtrum Pectus excavatum Clinodactyly Recurrent respiratory infections Dyspnea Polyhydramnios Retrognathia Respiratory tract infection Thick vermilion border Muscular hypotonia Highly arched eyebrow Tachypnea Abnormality of the hand Short middle phalanx of finger Hallux valgus Interstitial pulmonary abnormality Exertional dyspnea Abnormality of digit Bronchomalacia Parietal bossing Bronchospasm Intercostal retractions Neoplasm Failure to thrive Myalgia Postural instability Encephalocele Hydronephrosis Abnormality of the nose Craniofacial hyperostosis Fingernail dysplasia Diaphyseal thickening Deviation of finger Broad clavicles Sclerotic vertebral endplates Trigeminal neuralgia 2-3 finger syndactyly Sclerotic scapulae Curved distal phalanges of the hand Facial palsy secondary to cranial hyperostosis Cortically dense long tubular bones Amblyopia Broad ribs Horseshoe kidney Stenosis of the external auditory canal Brachyturricephaly Microcephaly Cryptorchidism Blindness Microphthalmia Umbilical hernia Low-set, posteriorly rotated ears Oral cleft Wide intermamillary distance Ambiguous genitalia Hypoplasia of penis Omphalocele Abnormal cortical bone morphology Abnormal cranial nerve morphology Sensory impairment Cloverleaf skull Hoarse voice Narrow face Scapular winging Axonal degeneration Facial paralysis Chronic pain Dysesthesia Weak voice Neuritis Peripheral axonal degeneration Cutis gyrata of scalp Radial head subluxation Brachial plexus neuropathy Deviation of the thumb Hyperostosis Nystagmus Strabismus Sensorineural hearing impairment Cognitive impairment Headache Hyperactivity Facial palsy Esotropia Overgrowth Tall stature Increased bone mineral density Anosmia Abnormality of pelvic girdle bone morphology Constriction of peripheral visual field Duplication of renal pelvis



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