Depressed nasal bridge, and Camptodactyly of finger

Diseases related with Depressed nasal bridge and Camptodactyly of finger

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


Top matches:

High match CRANIOFACIAL-DEAFNESS-HAND SYNDROME


Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.

CRANIOFACIAL-DEAFNESS-HAND SYNDROME Is also known as sommer-young-wee-frye syndrome|cdhs

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOFACIAL-DEAFNESS-HAND SYNDROME

High match MICROPHTHALMIA WITH LIMB ANOMALIES; MLA


MICROPHTHALMIA WITH LIMB ANOMALIES; MLA Is also known as waardenburg anophthalmia syndrome|anophthalmia-syndactyly|ophthalmoacromelic syndrome|oas

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Cleft palate
  • Low-set ears
  • High palate


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES; MLA

High match HEART AND BRAIN MALFORMATION SYNDROME; HBMS


Heart and brain malformation syndrome is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about HEART AND BRAIN MALFORMATION SYNDROME; HBMS

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Other less relevant matches:

High match METATROPIC DYSPLASIA


Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

METATROPIC DYSPLASIA Is also known as metatropic dwarfism

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about METATROPIC DYSPLASIA

High 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

High match AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS


Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.

AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS Is also known as vertebral anomalies|jarcho-levin syndrome|spondylothoracic dysplasia|spondylothoracic dysostosis|costovertebral dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS

High match ABLEPHARON MACROSTOMIA SYNDROME


Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ABLEPHARON MACROSTOMIA SYNDROME

High match FIBROCHONDROGENESIS


Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBROCHONDROGENESIS

High match AUTOSOMAL DOMINANT ROBINOW SYNDROME


Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME

High match DESBUQUOIS SYNDROME


Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant (see these terms), has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.

DESBUQUOIS SYNDROME Is also known as desbuquois dysplasia|dbqd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about DESBUQUOIS SYNDROME

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Camptodactyly of finger

Symptoms // Phenotype % cases
Anteverted nares Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Short nose Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Severe short stature Cleft palate Intellectual disability Prominent forehead Growth delay Camptodactyly Abnormality of the pinna Global developmental delay Scoliosis Syndactyly Clinodactyly of the 5th finger Interphalangeal joint contracture of finger Downslanted palpebral fissures Micrognathia Abnormal form of the vertebral bodies Abnormal facial shape Long philtrum Short neck Finger syndactyly Narrow chest Hemivertebrae Umbilical hernia Generalized hypotonia Microcephaly Macrocephaly Proptosis Low-set, posteriorly rotated ears Pectus carinatum Myopia Cataract Brachydactyly Respiratory insufficiency Midface retrusion Abnormality of the metaphysis Abnormality of the ribs Hip dislocation Micromelia Wide nasal bridge Flat face Blepharophimosis Posteriorly rotated ears Flexion contracture Frontal bossing Malar flattening High, narrow palate

Rare Symptoms - Less than 30% cases


Polydactyly Hypoplasia of the maxilla Platyspondyly Cutaneous syndactyly Skeletal dysplasia Kyphoscoliosis Kyphosis Abnormality of the urinary system Respiratory failure Hypoplastic nipples Coxa valga Coxa vara Prominent occiput Elbow dislocation Aplasia/Hypoplasia of the nipples Wide anterior fontanel Confusion Wide nose Limb undergrowth Broad ribs Short long bone Round face Small hand Bell-shaped thorax Short palm Sparse hair Telecanthus Bifid tongue Microtia Sacral dimple Narrow mouth Clinodactyly Abnormality of the intervertebral disk Retrognathia Dry skin Fine hair Pectus excavatum Epiphyseal dysplasia Short ribs Absent nipple Blue sclerae Epicanthus Inguinal hernia Visual impairment High palate Talipes equinovarus Short metacarpal Ptosis Hypospadias Fibular hypoplasia Cryptorchidism Microphthalmia Abnormality of the hair Abnormal vertebral morphology Single transverse palmar crease Toe syndactyly Postnatal growth retardation Cleft lip Ventricular septal defect Hernia Hypoplasia of penis Omphalocele Abnormality of the mouth Hypertrichosis Cryptophthalmos Ablepharon Microtia, third degree Absent hair Ventral hernia Delayed speech and language development Rib segmentation abnormalities Long uvula Abnormality of the odontoid process Block vertebrae Thin skin Short upper lip Cervical C2/C3 vertebral fusion Urogenital fistula Abnormality of female internal genitalia Anomalous pulmonary venous return Rib fusion Short foot Abnormality of the genital system High myopia Rhizomelia Atresia of the external auditory canal Short chin Abnormality of female external genitalia Abnormal nasal morphology Shallow orbits Labial hypoplasia Hypoplasia of the zygomatic bone Dental malocclusion Abnormality of finger Corneal erosion Abnormal hair pattern Underdeveloped nasal alae Absent eyelashes Absent eyebrow Hydrops fetalis Ectropion Conical tooth Ectodermal dysplasia Sparse eyebrow Wide mouth High-frequency hearing impairment Thin vermilion border Breast hypoplasia Abnormality of the outer ear Microdontia Excessive wrinkled skin Ambiguous genitalia Abnormality of skin pigmentation Knee dislocation Redundant skin Corneal opacity Overbite Cutis laxa Anterior rib cupping Joint contracture of the hand Short femoral neck Metaphyseal widening Hypoplastic labia minora Abnormality of the gingiva Clitoral hypoplasia Median cleft lip and palate Epispadias Acne Fingernail dysplasia Ridged fingernail Femoral hernia Avascular necrosis of the capital femoral epiphysis Hypoplastic labia majora Anodontia Capillary hemangioma Increased number of teeth Long palpebral fissure Open bite Curly eyelashes Abnormality of the penis Gingival overgrowth Joint hyperflexibility Radioulnar synostosis Relative macrocephaly Disproportionate short-limb short stature Accelerated skeletal maturation Short phalanx of finger Broad thumb Thick vermilion border Hirsutism Synophrys Euryblepharon Hypotrichosis Joint laxity Pes planus Glaucoma Obesity Respiratory distress Onychogryposis of fingernail Naevus flammeus of the eyelid Oligodontia Long eyelashes Plagiocephaly Metaphyseal cupping Dumbbell-shaped long bone Posterior rib cupping Thin clavicles Narrow greater sacrosciatic notches Broad long bones Long clavicles Hypoplastic ischia Abnormal diaphysis morphology Hypoplastic fingernail Pear-shaped vertebrae Hypoplastic scapulae Hearing abnormality Megalocornea Protuberant abdomen Thin ribs Thoracic hypoplasia Hypoplastic toenails Patent foramen ovale Broad ischia Widely patent coronal suture Specific learning disability Toe clinodactyly Truncal obesity Short clavicles Abnormal eyelash morphology Broad foot Patellar dislocation Hip dysplasia Genu recurvatum Aplasia/Hypoplasia of the abdominal wall musculature Hypodontia Posterior vertebral hypoplasia Advanced ossification of carpal bones Downturned corners of mouth Short philtrum Meningocele Upslanted palpebral fissure Alopecia Strabismus Widely patent sagittal suture Disproportionate short-trunk short stature Narrow nasal bridge Double outlet right ventricle Global brain atrophy Hand clenching Interrupted aortic arch Delayed CNS myelination Widow's peak Prominent metopic ridge Hyperactive deep tendon reflexes Poor eye contact Aplasia/Hypoplasia of the corpus callosum High forehead Thick lower lip vermilion Cerebellar vermis hypoplasia Narrow forehead Dandy-Walker malformation Brain atrophy Sepsis Everted lower lip vermilion Hydrocephalus Joint stiffness Muscular hypotonia of the trunk Fetal akinesia sequence Long thorax Thoracic kyphoscoliosis Rough bone trabeculation Spondylometaphyseal dysplasia Enlarged joints Flared iliac wings Abnormal cortical bone morphology Aplasia/Hypoplasia of the lungs Arthrogryposis multiplex congenita Hypoplasia of the odontoid process Abnormal joint morphology Short finger Multiple joint contractures Akinesia Osteoarthritis Peripheral axonal neuropathy Abnormal cardiac septum morphology Gastroesophageal reflux Pseudoarthrosis Lacrimal duct atresia Abnormality of the cardiovascular system Postaxial hand polydactyly Cleft upper lip Limited wrist movement Aplasia/Hypoplasia involving the nose Ulnar deviation of the wrist Ulnar deviation of the hand or of fingers of the hand Ulnar deviation of the hand Split hand Abnormality of the wrist Ulnar deviation of finger Congenital sensorineural hearing impairment Narrow face Depressed nasal ridge Bilateral sensorineural hearing impairment Sensorineural hearing impairment Short palpebral fissure Horseshoe kidney Polyhydramnios Foot oligodactyly Cerebral atrophy Hypoplasia of the corpus callosum Hyperreflexia Seizures Fused fourth and fifth metacarpals Camptodactyly of 2nd-5th fingers Metacarpal synostosis Flared nostrils Sandal gap Hand oligodactyly Abnormal renal morphology Short femur Postaxial foot polydactyly Oligodactyly Tibial bowing Anophthalmia Deep philtrum Caudal appendage Severe platyspondyly Abnormality of the ureter Ureteral duplication Bilateral camptodactyly Hypoplastic helices Bilateral renal hypoplasia Breast aplasia Small earlobe Aplasia cutis congenita of scalp Pyelonephritis Abnormality of the endocrine system 3-4 finger cutaneous syndactyly Eyelid coloboma Abnormality of the antihelix Short columella Palpebral edema Aplasia cutis congenita Multiple lipomas Agenesis of permanent teeth Underdeveloped tragus Underdeveloped antitragus Cupped ear Congenital diaphragmatic hernia Abnormality of immune system physiology Vertebral segmentation defect Short thorax Preaxial polydactyly Spina bifida occulta Scapular winging Spina bifida Broad forehead Abnormality of the scalp Respiratory tract infection Hyperlordosis Recurrent respiratory infections Abnormality of cardiovascular system morphology Congestive heart failure Atrial septal defect Intrauterine growth retardation Duplication of renal pelvis 2-3 toe syndactyly Abnormality of the thorax Cervical instability Abnormal metaphyseal vascular invasion Abnormality of the dentition Hypertension Absent primary metaphyseal spongiosa Hyperplasia of the femoral trochanters Halberd-shaped pelvis Dumbbell-shaped metaphyses Long coccyx Relatively short spine Hyperhidrosis Snail-like ilia Flared humeral metaphysis Short diaphyses Hypoplastic cervical vertebrae Flared femoral metaphysis Anisospondyly Abnormal enchondral ossification Renal insufficiency Mandibular prognathia Abnormality of the fingernails Renal agenesis Narrow palpebral fissure Type I diabetes mellitus Abnormality of the nail Hypohidrosis Recurrent urinary tract infections Renal hypoplasia Hypotelorism Abnormality of the skin Abnormality of the kidney Nail dysplasia Vesicoureteral reflux Delayed eruption of teeth Iris coloboma Congenital cataract Nail dystrophy Coloboma Protruding ear Abnormality of the femoral neck or head region



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