High palate, and Camptodactyly of finger

Diseases related with High palate and Camptodactyly of finger

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

Top matches:

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

Medium match CRISPONI SYNDROME

Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.

Related symptoms:

  • Seizures
  • Scoliosis
  • Micrognathia
  • Cognitive impairment
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about CRISPONI SYNDROME

Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.

CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME Is also known as catshl syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME

Other less relevant matches:

EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by Logan et al., 2011 and Boyden et al., 2012).

EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME Is also known as emardd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME

Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.

EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE Is also known as eds, spondylocheirodysplastic type|spondylocheirodysplasia, ehlers-danlos syndrome-like|scd-eds

Related symptoms:

  • Short stature
  • Growth delay
  • Failure to thrive
  • Flexion contracture
  • High palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE

Medium match GORDON SYNDROME

Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GORDON SYNDROME

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

Medium match BETHLEM MYOPATHY

Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.

BETHLEM MYOPATHY Is also known as ullrich scleroatonic muscular dystrophy|benign autosomal dominant myopathy|ullrich disease|ullrich congenital muscular dystrophy|muscular dystrophy, scleroatonic|ucmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BETHLEM MYOPATHY

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

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

Top 5 symptoms//phenotypes associated to High palate and Camptodactyly of finger

Symptoms // Phenotype % cases
Flexion contracture Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Talipes equinovarus Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Downslanted palpebral fissures Feeding difficulties Short stature Global developmental delay Interphalangeal joint contracture of finger Camptodactyly Hip dislocation Intellectual disability Pectus excavatum Generalized hypotonia Posteriorly rotated ears Failure to thrive Congenital hip dislocation Cleft lip Cleft palate Seizures Myopathy Facial palsy Kyphoscoliosis Hypertelorism Muscle weakness Protruding ear Ulnar deviation of the hand or of fingers of the hand Narrow mouth Ptosis Wide nasal bridge Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Postnatal growth retardation Webbed neck Epicanthus High, narrow palate Wide nose Malar flattening Short neck Blepharophimosis Motor delay Ulnar deviation of the wrist Abnormal vertebral morphology Short phalanx of finger Dandy-Walker malformation Triangular face Camptodactyly of toe Single transverse palmar crease Respiratory failure Gastroesophageal reflux Neonatal hypotonia Talipes Facial asymmetry Muscular dystrophy Generalized muscle weakness Abnormality of the foot Syndactyly Arthrogryposis multiplex congenita Short nose Joint laxity Joint stiffness Distal arthrogryposis Joint contracture of the hand Ulnar deviation of finger Anteverted nares Respiratory insufficiency Mildly elevated creatine phosphokinase Kyphosis Long philtrum Hyperhidrosis Sensorineural hearing impairment Abnormal facial shape Limitation of joint mobility Multiple joint contractures Bifid uvula Prominent forehead Microcephaly Microphthalmia Low-set ears Bilateral sensorineural hearing impairment Narrow face Increased variability in muscle fiber diameter EMG abnormality Generalized amyotrophy Growth hormone deficiency Round face Lissencephaly Abnormality of mitochondrial metabolism Respiratory insufficiency due to muscle weakness Cachexia Limb-girdle muscular dystrophy Pachygyria Congenital muscular dystrophy Torticollis Fused fourth and fifth metacarpals Scarring Postaxial foot polydactyly Abnormality of the hair Horseshoe kidney Hemivertebrae Sandal gap Deep philtrum Anophthalmia Tibial bowing Oligodactyly Fibular hypoplasia Short femur Feeding difficulties in infancy Abnormal renal morphology Hand oligodactyly Flared nostrils Foot oligodactyly Metacarpal synostosis Camptodactyly of 2nd-5th fingers Hyperkeratosis Rigidity Proximal muscle weakness Difficulty climbing stairs Ulnar deviation of the hand Spinal rigidity Sepsis Prominent nasolabial fold Round ear Absent phalangeal crease Visual impairment Hyperreflexia Ventricular septal defect Hypoplasia of the corpus callosum Cerebral atrophy Polyhydramnios Muscular hypotonia of the trunk Abnormality of the pinna Abnormal cardiac septum morphology Everted lower lip vermilion Brain atrophy Overlapping fingers Narrow forehead Cerebellar vermis hypoplasia Thick lower lip vermilion Wide anterior fontanel Aplasia/Hypoplasia of the corpus callosum Global brain atrophy Prominent occiput Poor eye contact Hyperactive deep tendon reflexes Prominent metopic ridge Widow's peak Delayed CNS myelination Interrupted aortic arch Calcaneovalgus deformity Trismus Ankle contracture Elevated serum creatine phosphokinase Progressive proximal muscle weakness Recurrent lower respiratory tract infections Proximal amyotrophy Follicular hyperkeratosis Type 1 muscle fiber predominance Slender build Muscle fiber necrosis Nocturnal hypoventilation Impaired mastication Short palpebral fissure Hyperextensibility at wrists Increased laxity of fingers Increased laxity of ankles Severe short stature Aplasia/Hypoplasia of the radius Mandibular prognathia Prominent nasal bridge Bilateral single transverse palmar creases Short chin Narrow palpebral fissure Adducted thumb Congenital contracture Rocker bottom foot Metatarsus adductus Vertebral segmentation defect Abnormality of the ear Tarsal synostosis Abnormality of the hip bone Split hand Pterygium Abnormality of the cardiovascular system Poor head control Lacrimal duct atresia Encephalopathy Areflexia Hyporeflexia Clinodactyly Respiratory tract infection Paralysis Decreased fetal movement Recurrent pneumonia Severe muscular hypotonia Nasal speech Telecanthus Restrictive ventilatory defect Long fingers Bulbar palsy Difficulty running Increased connective tissue Diaphragmatic paralysis Respiratory arrest Increased endomysial connective tissue Proptosis Osteopenia Respiratory distress Dysphagia Pes planus Depressed nasal ridge Abnormality of the wrist Hypertonia Sudden cardiac death Full cheeks Hypohidrosis Malignant hyperthermia Large face Congenital sensorineural hearing impairment Cataract Myopia Craniosynostosis Muscular hypotonia Arachnodactyly High myopia Tall stature Ectopia lentis Osteochondroma Increased vertebral height Abnormality of lower limb joint Broad femoral metaphyses Hypoplasia of the maxilla Flat face Skeletal dysplasia Platyspondyly Postaxial hand polydactyly Cutaneous finger syndactyly Retinopathy Finger syndactyly Ophthalmoplegia Abnormality of skin pigmentation Lumbar hyperlordosis Knee flexion contracture Cognitive impairment Overlapping toe Bilateral talipes equinovarus Decreased muscle mass Submucous cleft hard palate Hyperlordosis Thoracolumbar scoliosis Down-sloping shoulders Abnormality of the rib cage Decreased hip abduction Frontal bossing Aplasia/Hypoplasia involving the nose Polydactyly Retrognathia Toe syndactyly Cleft upper lip Limited wrist movement Deeply set eye Bruising susceptibility Metaphyseal widening Tapered finger Delayed eruption of teeth Hypodontia Dental malocclusion Short metacarpal Waddling gait Blue sclerae Thin skin Abnormality of the metaphysis Hyperextensible skin Short femoral neck Clinodactyly of the 5th finger Irregular vertebral endplates Prominent superficial veins Broad femoral neck Flat capital femoral epiphysis Flattened epiphysis Thenar muscle atrophy Moderately short stature Cigarette-paper scars Absent palmar crease Cryptorchidism Intellectual disability, mild Hand clenching


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