Cleft palate, and Camptodactyly

Diseases related with Cleft palate and Camptodactyly

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


Top matches:

Low match AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME


Autosomal dominant multiple pterygium syndrome is a rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.

AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME Is also known as distal arthrogryposis type 8|multiple pterygium syndrome, autosomal dominant|pterygium syndrome, multiple, autosomal dominant

Related symptoms:

  • Short stature
  • Scoliosis
  • Cleft palate
  • Ptosis
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME

Low match NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM


NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Is also known as isolated congenital gonadotropin deficiency|normosmic idiopathic hypogonadotropic hypogonadism|gonadotropic deficiency|nihh

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Depressed nasal bridge
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

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

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 DISTAL ARTHROGRYPOSIS TYPE 5D


Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.

DISTAL ARTHROGRYPOSIS TYPE 5D Is also known as distal arthrogryposis type 5 without ophthalmoparesis|da5d|distal arthrogryposis type 5 without ophthalmoplegia

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL ARTHROGRYPOSIS TYPE 5D

Low match LIMB-MAMMARY SYNDROME


Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.

LIMB-MAMMARY SYNDROME Is also known as lms

Related symptoms:

  • Cleft palate
  • Syndactyly
  • Hypogonadism
  • Camptodactyly
  • Hypodontia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LIMB-MAMMARY SYNDROME

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

Top 5 symptoms//phenotypes associated to Cleft palate and Camptodactyly

Symptoms // Phenotype % cases
Camptodactyly of finger Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Low-set, posteriorly rotated ears Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ptosis Scoliosis Short neck Syndactyly Arachnodactyly Anteverted nares

Rare Symptoms - Less than 30% cases


Abnormality of cardiovascular system morphology Primary amenorrhea Iris coloboma Failure to thrive Cataract Neonatal hypotonia Strabismus Microphthalmia Brachydactyly Epicanthus Growth delay Round face Coloboma Abnormal oral frenulum morphology Micrognathia Osteoporosis Short stature Global developmental delay Pterygium Pectus excavatum Craniosynostosis Arthrogryposis multiplex congenita Elbow flexion contracture Talipes equinovarus Lumbar hyperlordosis Long fingers Nasal speech Distal arthrogryposis Seizures Narrow chest Joint stiffness Aganglionic megacolon Hydroureter Hyperparathyroidism Aplasia/Hypoplasia of the abdominal wall musculature Broad forehead Vesicoureteral reflux Abdominal distention Anonychia Bulbar palsy Prominent nasal bridge Generalized muscle weakness Respiratory distress Myopathy Encephalopathy Areflexia Hyporeflexia Respiratory failure Gastroesophageal reflux Facial palsy Respiratory tract infection Paralysis Muscular dystrophy Decreased fetal movement Umbilical hernia Recurrent pneumonia Severe muscular hypotonia Poor head control Restrictive ventilatory defect Megacystis Difficulty running Increased connective tissue Diaphragmatic paralysis Respiratory arrest Increased endomysial connective tissue Microcephaly Abdominal situs inversus Congenital hip dislocation Skeletal muscle atrophy Preauricular skin tag Joint contracture of the hand Hypergonadotropic hypogonadism Hallux valgus Gonadal dysgenesis Hypoplastic nipples Ectrodactyly Split foot Lacrimal duct atresia Hypoplasia of the maxilla Encephalocele Finger clinodactyly Split hand Aplasia/Hypoplasia of the corpus callosum Diabetes insipidus Hypopituitarism Widow's peak Bifid tongue Hypoplastic frontal sinuses Dermoid cyst Congenital conductive hearing impairment Cranium bifidum occultum Lipoma of corpus callosum Midline nasal groove Hypohidrosis Amenorrhea Pes planus Submucous cleft hard palate Hyperlordosis Hip dislocation Ophthalmoplegia Bulbous nose Highly arched eyebrow Exotropia Motor delay Adducted thumb Congenital contracture Rocker bottom foot Decreased muscle mass Hypoplastic labia majora Nail dysplasia Furrowed tongue Labial hypoplasia Pulmonary insufficiency Calcaneovalgus deformity Tongue atrophy Unilateral ptosis Limited knee flexion Hypogonadism Hypodontia Bifid uvula Ectodermal dysplasia Dysphagia Skeletal dysplasia Feeding difficulties Eunuchoid habitus Hypoplasia of the uterus Sparse body hair Secondary amenorrhea Generalized joint laxity Male hypogonadism Decreased serum testosterone level Absence of secondary sex characteristics Breast hypoplasia Decreased testosterone in males Female hypogonadism Congenital sensorineural hearing impairment Hypoplasia of the ovary Non-obstructive azoospermia Absence of pubertal development Abnormality of body height Increased female libido Frontal bossing Short nose Long philtrum Brachycephaly Impotence Abnormality of the voice Proptosis Depressed nasal bridge Knee flexion contracture Hemivertebrae Cutaneous syndactyly Abnormal palate morphology Vertebral fusion Hip contracture Spondylolisthesis Multiple pterygia Cryptorchidism Abnormality of the dentition Azoospermia Depressivity Delayed skeletal maturation Micropenis Osteopenia Anxiety Delayed puberty Wide intermamillary distance Decreased testicular size Gynecomastia Hypogonadotrophic hypogonadism Narrow mouth Talipes High palate Toe clinodactyly Malar flattening Midface retrusion Clinodactyly Telecanthus Abnormality of skin pigmentation Short toe Multiple joint contractures Anal stenosis Fibroma Camptodactyly of toe Low-set ears Mesomelic arm shortening Mesomelic leg shortening Localized skin lesion Abnormal foot bone ossification Abnormal hand bone ossification Localized osteoporosis Generalized hypotonia Muscle weakness Muscular hypotonia Abnormality of the skeletal system Bullet-shaped distal phalanx of the hallux Recurrent fractures Elbow ankylosis Abnormality of the ribs Choanal atresia Delayed cranial suture closure Femoral bowing Underdeveloped supraorbital ridges Turricephaly Hypoplasia of the zygomatic bone Abnormal renal morphology Narrow pelvis bone Intellectual disability Abnormality iris morphology Behavioral abnormality Autistic behavior Short philtrum Small for gestational age Severe global developmental delay Toe syndactyly Interphalangeal joint contracture of finger Central apnea Small face Hand clenching Basal encephalocele



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Neuroblastoma and Dandy-Walker malformation, related diseases and genetic alterations Fever and Congenital cataract, related diseases and genetic alterations Lymphoma and Difficulty walking, related diseases and genetic alterations Lymphoma and Hypopigmentation of the skin, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more