Hypertelorism, and Camptodactyly of finger

Diseases related with Hypertelorism and Camptodactyly of finger

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

Top matches:

High match SYNDACTYLY TYPE 3

Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.

SYNDACTYLY TYPE 3 Is also known as ring and little finger syndactyly|sdty3|syndactyly of fingers 4 and 5|syndactyly of fingers iv and v|sd3

Related symptoms:

  • Hypertelorism
  • Abnormality of the dentition
  • Syndactyly
  • Clinodactyly
  • Camptodactyly of finger


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SYNDACTYLY TYPE 3

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

Familial hypertryptophanemia is characterized by intellectual deficit associated with behavioral problems: periodic mood swings, exaggerated affective responses and abnormal sexual behavior. Twelve cases have been reported so far. Congenital abnormalities in tryptophan metabolism appear to be responsible for the tryptophanemia and tryptophanuria.

HYPERTRYPTOPHANEMIA Is also known as hypertryptophanemia, familial

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRYPTOPHANEMIA

Other less relevant matches:

Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: ORPHANET MENDELIAN

More info about ANTLEY-BIXLER SYNDROME

Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.

FREEMAN-SHELDON SYNDROME Is also known as craniocarpotarsal dystrophy|craniocarpotarsal dysplasia|distal arthrogryposis type 2a|whistling face syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about FREEMAN-SHELDON SYNDROME

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.

TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME Is also known as odpf syndrome|odpd|osseous dysplasia, digital, with facial pigmentary defects and multiple frenula|todpd|terminal osseous dysplasia and pigmentary defects|odpf

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Ptosis
  • Low-set ears
  • Flexion contracture


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME

High match FRONTORHINY

Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.

FRONTORHINY Is also known as frontonasal dysplasia type 1|isolated median cleft face syndrome|alx3-related frontonasal dysplasia

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about FRONTORHINY

High match WEAVER SYNDROME

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

WEAVER SYNDROME Is also known as camptodactyly-overgrowth-unusual facies syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about WEAVER SYNDROME

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.

SHELDON-HALL SYNDROME Is also known as arthrogryposis multiplex congenita, distal, type ii, with craniofacial abnormalities|sheldon-hall syndrome|shs|distal arthrogryposis type 2b|fssv|arthrogryposis multiplex congenita, distal, type 2b|freeman-sheldon syndrome variant

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHELDON-HALL SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Camptodactyly of finger

Symptoms // Phenotype % cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Ptosis Uncommon - Between 30% and 50% cases
Low-set, posteriorly rotated ears Uncommon - Between 30% and 50% cases
Narrow mouth Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Camptodactyly of finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Joint stiffness Interphalangeal joint contracture of finger Long philtrum Cleft palate Strabismus Flexion contracture Ulnar deviation of finger Wide nasal bridge Talipes equinovarus Malar flattening Intellectual disability Global developmental delay Epicanthus Micrognathia Hearing impairment Clinodactyly

Rare Symptoms - Less than 30% cases

Cataract Multiple joint contractures Behavioral abnormality Adducted thumb Iris coloboma Abnormality of cardiovascular system morphology Camptodactyly Brachydactyly Arachnodactyly Talipes Short neck Short stature Abnormal oral frenulum morphology Growth delay Failure to thrive Cryptorchidism Abnormality of the dentition Microphthalmia Feeding difficulties in infancy Coloboma Finger syndactyly Ulnar deviation of the hand or of fingers of the hand Hypoplasia of the maxilla Short nose Depressed nasal ridge Narrow face Sensorineural hearing impairment Telecanthus Short toe Ulnar deviation of the wrist Syndactyly Fine hair Macrotia Retrognathia Broad forehead Joint hyperflexibility Round face Hypoplasia of penis Abnormality of the metaphysis Pes cavus Broad thumb Tall stature Hoarse voice Abnormal foot bone ossification Abnormality of the fingernails Accelerated skeletal maturation Localized skin lesion Sandal gap Abnormal hand bone ossification Inguinal hernia Lumbar hyperlordosis Bifid tongue Encephalocele Preauricular skin tag Finger clinodactyly Aplasia/Hypoplasia of the corpus callosum Localized osteoporosis Diabetes insipidus Hypopituitarism Widow's peak Hypoplastic frontal sinuses Hypertonia Dermoid cyst Congenital conductive hearing impairment Cranium bifidum occultum Lipoma of corpus callosum Midline nasal groove Deep philtrum Spasticity Macrocephaly Basal encephalocele Hypoplastic toenails Redundant skin Vertebral segmentation defect Bilateral single transverse palmar creases Congenital hip dislocation Short chin Narrow palpebral fissure Congenital contracture Rocker bottom foot Metatarsus adductus Mildly elevated creatine phosphokinase Abnormality of the ear Triangular face Tarsal synostosis Abnormality of the hip bone Aplasia/Hypoplasia of the radius Distal arthrogryposis Trismus Overlapping fingers Calcaneovalgus deformity Prominent nasolabial fold Round ear Webbed neck Facial asymmetry Large hands Elevated serum creatine phosphokinase Mesomelic arm shortening Broad foot Thin nail Deep-set nails Abnormally low-pitched voice Muscle weakness High palate Feeding difficulties Myopathy Severe short stature Abnormality of the foot Posteriorly rotated ears Mandibular prognathia Kyphoscoliosis Cleft lip Facial palsy Protruding ear Prominent nasal bridge Hip dislocation Arthrogryposis multiplex congenita Mesomelic leg shortening Limited wrist movement Camptodactyly of toe Bilateral sensorineural hearing impairment Anteverted nares Ulnar deviation of the hand Abnormality of the wrist Brachycephaly Proptosis Congenital sensorineural hearing impairment Craniosynostosis Narrow chest Recurrent fractures Lacrimal duct atresia Abnormality of the ribs Choanal atresia Delayed cranial suture closure Femoral bowing Underdeveloped supraorbital ridges Turricephaly Hypoplasia of the zygomatic bone Abnormal renal morphology Frontal bossing Head-banging Elbow ankylosis Intellectual disability, moderate Visual impairment Myopia Fever Depressivity Arthralgia Pes planus Aggressive behavior Joint laxity Skin rash Tryptophanuria High myopia Emotional lability Limited elbow extension Overweight Generalized joint laxity Mood swings Stuttering Hypersexuality Narrow pelvis bone High, narrow palate Toe clinodactyly Abnormality of limb bone morphology Long fingers Central apnea Small face Hand clenching 4-5 finger syndactyly Abnormality iris morphology Bullet-shaped distal phalanx of the hallux Low-set ears Short 5th finger Severe global developmental delay Abnormality of the skeletal system Midface retrusion Osteoporosis Skeletal dysplasia Abnormality of skin pigmentation Aplasia/Hypoplasia involving the nose Anal stenosis Fibroma Toe syndactyly Small for gestational age Wide nose Nasal speech Flat face Blepharophimosis Hernia Polyhydramnios Deeply set eye Neurological speech impairment Underdeveloped nasal alae Oligohydramnios Malignant hyperthermia Short philtrum Dimple chin Prenatal movement abnormality Absent palmar crease Seizures Depressed nasal bridge Abnormal facial shape Neonatal hypotonia Autistic behavior Absent middle phalanx of 5th finger Absent phalangeal crease


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