Cleft palate, and Interphalangeal joint contracture of finger

Diseases related with Cleft palate and Interphalangeal joint contracture of finger

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


Top matches:

Low match ANTLEY-BIXLER SYNDROME


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

Low match 2Q24 MICRODELETION 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

Low match TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS 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

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Other less relevant matches:

Low match EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME


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

Low match FAMILIAL VISCERAL MYOPATHY


Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.

FAMILIAL VISCERAL MYOPATHY Is also known as familial hollow visceral myopathy|megaduodenum and/or megacystis|hereditary hollow visceral myopathy

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cleft palate
  • Anteverted nares
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL VISCERAL MYOPATHY

Low 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

Low 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

Low 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

Low 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

Low match WAARDENBURG SYNDROME, TYPE 3; WS3


Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4 ), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).

WAARDENBURG SYNDROME, TYPE 3; WS3 Is also known as klein-waardenburg syndrome|waardenburg syndrome, type iii|waardenburg syndrome with upper limb anomalies

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 3; WS3

Top 5 symptoms//phenotypes associated to Cleft palate and Interphalangeal joint contracture of finger

Symptoms // Phenotype % cases
Camptodactyly of finger Very Common - Between 80% and 100% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Low-set, posteriorly rotated ears Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Interphalangeal joint contracture of finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Syndactyly Brachydactyly Intellectual disability Hearing impairment Abnormality of skin pigmentation Ptosis High palate Arthrogryposis multiplex congenita Talipes equinovarus Microphthalmia Cataract Failure to thrive Growth delay Global developmental delay Epicanthus Narrow chest Joint stiffness Downslanted palpebral fissures Arachnodactyly

Rare Symptoms - Less than 30% cases


Abnormal vertebral morphology Kyphoscoliosis Abnormality of cardiovascular system morphology Midface retrusion Clinodactyly Clinodactyly of the 5th finger Skeletal dysplasia Telecanthus Camptodactyly Iris coloboma Multiple joint contractures Short nose Camptodactyly of toe Short stature Low-set ears Strabismus Generalized hypotonia Anteverted nares Frontal bossing Pectus excavatum Lumbar hyperlordosis Respiratory failure Aganglionic megacolon Abdominal distention Prominent nasal bridge Micrognathia Abnormality of the skeletal system Cutaneous finger syndactyly Depressed nasal bridge Coloboma Cleft lip Blepharophimosis Abnormal renal morphology Seizures Abnormality of the ribs Prominent forehead Talipes Short neck Single transverse palmar crease Neonatal hypotonia Microcephaly Abnormal oral frenulum morphology Toe syndactyly Long fingers Short palpebral fissure Confusion Kyphosis Cleft upper lip Hip dislocation Severe short stature High forehead Platyspondyly Micromelia Limb undergrowth Peripheral axonal neuropathy Polydactyly Decreased hip abduction Osteoarthritis Abnormality of the metaphysis Epiphyseal dysplasia Abnormal form of the vertebral bodies Postnatal growth retardation Short ribs Ulnar deviation of the hand or of fingers of the hand Hydrocephalus Hemivertebrae Respiratory insufficiency Fibular hypoplasia Abnormality of the cardiovascular system Deep philtrum Posteriorly rotated ears Anophthalmia Postaxial hand polydactyly Split hand Tibial bowing Oligodactyly Postaxial foot polydactyly Fused fourth and fifth metacarpals Short femur Abnormality of the hair Horseshoe kidney Sandal gap Flared nostrils Foot oligodactyly Metacarpal synostosis Camptodactyly of 2nd-5th fingers Retrognathia Hand oligodactyly Short diaphyses Akinesia Congenital sensorineural hearing impairment Intellectual disability, severe Vomiting Mandibular prognathia Spastic paraplegia Synophrys Paraplegia Thick vermilion border Hypopigmentation of the skin Underdeveloped nasal alae Anorexia Joint contracture of the hand Scapular winging Hypopigmented skin patches Albinism Wide nasal bridge Premature graying of hair Sprengel anomaly Vitiligo Carpal synostosis Blue irides Heterochromia iridis White hair Atelectasis White forelock Bronchomalacia Narrow naris Partial albinism Dacryocystitis Atrial septal defect Sensorineural hearing impairment Short finger Pseudoarthrosis Abnormal joint morphology Hypoplasia of the odontoid process Aplasia/Hypoplasia of the lungs Fetal akinesia sequence Abnormal cortical bone morphology Flared iliac wings Enlarged joints Spondylometaphyseal dysplasia Rough bone trabeculation Thoracic kyphoscoliosis Long thorax Abnormality of the intervertebral disk Caudal appendage Severe platyspondyly Absent primary metaphyseal spongiosa Cervical instability Abnormal enchondral ossification Anisospondyly Flared femoral metaphysis Hypoplastic cervical vertebrae Down-sloping shoulders Flared humeral metaphysis Snail-like ilia Relatively short spine Abnormal metaphyseal vascular invasion Long coccyx Dumbbell-shaped metaphyses Halberd-shaped pelvis Hyperplasia of the femoral trochanters Abnormality of the rib cage Basal encephalocele Thoracolumbar scoliosis Dysphagia Toe clinodactyly Mesomelic arm shortening Mesomelic leg shortening Localized skin lesion Abnormal foot bone ossification Abnormal hand bone ossification Localized osteoporosis Muscle weakness Muscular hypotonia Feeding difficulties Motor delay Respiratory distress Anal stenosis Myopathy Encephalopathy Areflexia Hyporeflexia Gastroesophageal reflux Facial palsy Respiratory tract infection Paralysis Muscular dystrophy Generalized muscle weakness Decreased fetal movement Recurrent pneumonia Fibroma Short toe Poor head control Hypoplasia of the zygomatic bone Long philtrum Brachycephaly Narrow mouth Proptosis Craniosynostosis Recurrent fractures Choanal atresia Delayed cranial suture closure Femoral bowing Underdeveloped supraorbital ridges Turricephaly Narrow pelvis bone Osteoporosis Elbow ankylosis Behavioral abnormality Autistic behavior Short philtrum Small for gestational age Severe global developmental delay Central apnea Small face Hand clenching Abnormality iris morphology Bullet-shaped distal phalanx of the hallux Malar flattening Severe muscular hypotonia Nasal speech Distal arthrogryposis Facial asymmetry Lipoma of corpus callosum Midline nasal groove Cryptorchidism Intellectual disability, mild Deeply set eye Hyperlordosis Protruding ear Retinopathy Finger syndactyly Ophthalmoplegia Abnormality of the foot Triangular face Congenital conductive hearing impairment Bifid uvula Limitation of joint mobility Webbed neck Dandy-Walker malformation Short phalanx of finger Congenital hip dislocation Knee flexion contracture Pterygium Overlapping toe Bilateral talipes equinovarus Decreased muscle mass Submucous cleft hard palate Cranium bifidum occultum Dermoid cyst Restrictive ventilatory defect Anonychia Bulbar palsy Difficulty running Increased connective tissue Diaphragmatic paralysis Respiratory arrest Increased endomysial connective tissue Umbilical hernia Broad forehead Vesicoureteral reflux Round face Hydroureter Hyperparathyroidism Hypoplastic frontal sinuses Aplasia/Hypoplasia of the abdominal wall musculature Abdominal situs inversus Megacystis Hypoplasia of the maxilla Encephalocele Preauricular skin tag Finger clinodactyly Aplasia/Hypoplasia of the corpus callosum Diabetes insipidus Hypopituitarism Widow's peak Bifid tongue Poliosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Optic atrophy and Bone marrow hypocellularity, related diseases and genetic alterations Wide nasal bridge and Paralysis, related diseases and genetic alterations Flexion contracture and Severe global developmental delay, related diseases and genetic alterations Cognitive impairment and Kyphoscoliosis, related diseases and genetic alterations

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