Cleft palate, and Finger syndactyly

Diseases related with Cleft palate and Finger syndactyly

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


Top matches:

Low match POPLITEAL PTERYGIUM SYNDROME; PPS


POPLITEAL PTERYGIUM SYNDROME; PPS Is also known as cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies|faciogenitopopliteal syndrome

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Flexion contracture
  • Abnormality of the skeletal system
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about POPLITEAL PTERYGIUM SYNDROME; PPS

Low match AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME


Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.

AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME Is also known as facio-genito-popliteal syndrome|popliteal web syndrome

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Thin upper lip vermilion


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME

Low match MCKUSICK-KAUFMAN SYNDROME


McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

MCKUSICK-KAUFMAN SYNDROME Is also known as kaufman-mckusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME

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Other less relevant matches:

Low match AMYOTROPHY, HEREDITARY NEURALGIC; HNA


Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

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 PFEIFFER SYNDROME TYPE 2


Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS; see this term), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 2

Low match BLEPHARO-CHEILO-ODONTIC SYNDROME


Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.

BLEPHARO-CHEILO-ODONTIC SYNDROME Is also known as lagophthalmia with bilateral cleft lip and palate|clefting, ectropion, and conical teeth|ectropion, inferior, with cleft lip and/or palate|lagophthalmia-cleft lip and palate syndrome|bcd syndrome|blepharocheilodontic syndrome|elschnig syndrome|bcds|elschi

Related symptoms:

  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape
  • Cleft palate
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHARO-CHEILO-ODONTIC SYNDROME

Low match PFEIFFER SYNDROME TYPE 3


Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 3

Low match ZLOTOGORA-OGUR SYNDROME


Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

ZLOTOGORA-OGUR SYNDROME Is also known as cleft lip/palate-ectodermal dysplasia syndrome|clped1|ed4|syndactyly-ectodermal dysplasia-cleft/lip palate|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia, margarita island type|ectodermal dysplasia, cleft lip and palate, mental retar

Related symptoms:

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Cleft palate
  • Wide nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZLOTOGORA-OGUR SYNDROME

Low match ROSSELLI-GULIENETTI SYNDROME


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ROSSELLI-GULIENETTI SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Finger syndactyly

Symptoms // Phenotype % cases
Toe syndactyly Common - Between 50% and 80% cases
Syndactyly Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Anal atresia Uncommon - Between 30% and 50% cases
Ectodermal dysplasia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Cleft lip Cleft upper lip Hypodontia Bilateral cleft lip and palate Scrotal hypoplasia Choanal atresia Sparse hair Micrognathia Hypogonadism Respiratory distress Carious teeth Oral cleft Cryptorchidism Depressed nasal bridge Low-set ears Midface retrusion Global developmental delay High palate Nail dysplasia Hypohidrosis High forehead Bifid uvula Malar flattening Cutaneous finger syndactyly Bilateral cleft lip Hypertelorism

Rare Symptoms - Less than 30% cases


Recurrent respiratory infections Downslanted palpebral fissures Macrotia EEG abnormality Arnold-Chiari malformation Wide nasal bridge Broad thumb Laryngomalacia Abnormal facial shape Intestinal malrotation Limitation of joint mobility Abnormality of the dentition Short foot Small hand Protruding ear Hyperhidrosis Upslanted palpebral fissure Proptosis Tracheomalacia Short nose Short hallux Broad hallux phalanx Aqueductal stenosis Hallux varus Hyperlordosis Increased intracranial pressure Neurological speech impairment Split hand Pili torti Abnormality of dental enamel Palmoplantar hyperkeratosis Popliteal pterygium Dystrophic fingernails Sparse eyelashes Sparse lateral eyebrow Cutaneous syndactyly of toes Dystrophic toenail Fibrous syngnathia Anodontia Abnormality of the ureter Abnormality of the ear Abnormality of dental morphology Hypoplastic labia majora Ankyloblepharon Bifid scrotum Synophrys Highly arched eyebrow Abnormality of the skeletal system Bilateral single transverse palmar creases Flexion contracture Wide intermamillary distance Hydronephrosis Progressive hypotrichosis Microdontia Short stature Abnormality of the philtrum Pterygium Sparse and thin eyebrow Conductive hearing impairment Posteriorly rotated ears Agenesis of corpus callosum Aplasia/Hypoplasia of the eyebrow Hypothyroidism Neoplasm Hypoplasia of the zygomatic bone Clinodactyly Blindness Deviation of the thumb Anhidrosis Cloverleaf skull Scaling skin Hypotrichosis Abnormality of the eye Cutaneous syndactyly Brittle hair Sparse scalp hair Thyroid agenesis Ectropion of lower eyelids Dermoid cyst Euryblepharon Multiple rows of eyelashes Hearing impairment Vesicoureteral reflux Epidermoid cyst Horseshoe kidney Stenosis of the external auditory canal Brachyturricephaly Triangular face Alopecia Abnormality of the kidney Meningoencephalocele Unilateral cleft lip Abnormal dermatoglyphics Reduced number of teeth Flat face Small nail Opacification of the corneal stroma Nail dystrophy Oligodontia Abnormality of vision Ectropion Distichiasis Overfolded helix Vertebral fusion Abnormal eyelid morphology Myelomeningocele High anterior hairline Conical tooth Abnormal hair quantity Amblyopia Amenorrhea Atresia of the external auditory canal Aganglionic megacolon Lip pit Failure to thrive Brachydactyly Ventricular septal defect Atrial septal defect Patent ductus arteriosus Tetralogy of Fallot Postaxial hand polydactyly Multicystic kidney dysplasia Non-midline cleft lip Renal hypoplasia/aplasia Abnormality of the metacarpal bones Hypoplastic left heart Tarsal synostosis Postaxial foot polydactyly Ectopic anus Urogenital sinus anomaly Urethral stricture Hydrometrocolpos Nonketotic hyperglycinemia Generalized hirsutism Muscle weakness Abnormality of the scrotum Talipes equinovarus Dementia Overgrowth Abnormality of the genital system Spina bifida occulta Hypoplasia of the uterus Labial hypoplasia Hypoplasia of the vagina Lower lip pit Abnormality of the nail Absent scrotum Intercrural pterygium Pyramidal skinfold extending from the base to the top of the nails Scoliosis Thin upper lip vermilion Joint stiffness Specific learning disability Ambiguous genitalia Abnormality of the ribs Glandular hypospadias Pain Visual loss Camptodactyly Chronic pain Dysesthesia Weak voice Neuritis Peripheral axonal degeneration Cutis gyrata of scalp Radial head subluxation Brachial plexus neuropathy Primary amenorrhea Axonal degeneration Joint contracture of the hand Hypergonadotropic hypogonadism Hallux valgus Gonadal dysgenesis Hypoplastic nipples Ectrodactyly Split foot Lacrimal duct atresia Hydrocephalus Facial paralysis Scapular winging Ptosis Rigidity Epicanthus Peripheral neuropathy Skeletal muscle atrophy Fatigue Edema Depressivity Hyporeflexia Narrow mouth Deeply set eye Myalgia Narrow palpebral fissure Paralysis Blepharophimosis Facial asymmetry Paresthesia Postural instability Sensory impairment Hypotelorism Hoarse voice Narrow face Anteverted ears



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