Cleft palate, and Nail dysplasia

Diseases related with Cleft palate and Nail dysplasia

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


Top matches:

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 LYMPHEDEMA, HEREDITARY, IA; LMPH1A


Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). Genetic Heterogeneity of Hereditary Primary LymphedemaPrimary lymphedema is genetically heterogeneous: see also LMPH1B (OMIM ), which maps to chromosome 6q16.2-q22.1; LMPH1C (OMIM ), caused by mutation in the GJC2 gene (OMIM ) on chromosome 1q42; and LMPH1D (OMIM ), caused by mutation in the VEGFC gene (OMIM ) on chromosome 4q34. Hereditary lymphedema III (LMPH3 ) is caused by mutaiton in the PIEZO1 gene (OMIM ) on chromosome 16q24.Also see hereditary lymphedema type II (OMIM ), also known as Meige lymphedema.Lymphedema can also be a feature of syndromic disorders such as lymphedema-distichiasis syndrome (OMIM ), which is caused by mutation in the FOXC2 gene (OMIM ).

LYMPHEDEMA, HEREDITARY, IA; LMPH1A Is also known as primary congenital lymphedema|pcl|nonne-milroy lymphedema|lymphedema, early-onset|milroy disease

Related symptoms:

  • Scoliosis
  • Strabismus
  • Cleft palate
  • Ptosis
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, IA; LMPH1A

Low match SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7 Is also known as short rib-polydactyly syndrome, type v|srps5

Related symptoms:

  • Cleft palate
  • High palate
  • Epicanthus
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7

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Other less relevant matches:

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

Low match ACROFACIAL DYSOSTOSIS, RODRÍGUEZ TYPE


Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.

ACROFACIAL DYSOSTOSIS, RODRÍGUEZ TYPE Is also known as rodriguez lethal acrofacial dysostosis syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ACROFACIAL DYSOSTOSIS, RODRÍGUEZ TYPE

Low match RAPP-HODGKIN SYNDROME; RHS


RAPP-HODGKIN SYNDROME; RHS Is also known as ectodermal dysplasia, anhidrotic, with cleft lip/palate

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about RAPP-HODGKIN SYNDROME; RHS

Low match ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE


ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE Is also known as hay-wells syndrome|aec syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Cleft palate
  • Pain


SOURCES: OMIM MESH MENDELIAN

More info about ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS


Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS Is also known as semd-md|semdjl2|spondyloepimetaphyseal dysplasia with joint laxity type 2|spondyloepimetaphyseal dysplasia with joint laxicity, hall type|spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with multiple

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS

Low match OTOPALATODIGITAL SYNDROME, TYPE I; OPD1


Otopalatodigital syndrome-1 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include frontometaphyseal dysplasia (FMD1 ), otopalatodigital syndrome-2 (OPD2 ), and Melnick-Needles syndrome (MNS ), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD is characterized by a generalized skeletal dysplasia, deafness and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by Robertson, 2005). Verloes et al. (2000) suggested that these disorders constitute a single entity, which they termed 'frontootopalatodigital osteodysplasia.'

OTOPALATODIGITAL SYNDROME, TYPE I; OPD1 Is also known as opd syndrome 1|opd i syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTOPALATODIGITAL SYNDROME, TYPE I; OPD1

Top 5 symptoms//phenotypes associated to Cleft palate and Nail dysplasia

Symptoms // Phenotype % cases
Syndactyly Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases
Hypodontia Uncommon - Between 30% and 50% cases
Malar flattening Uncommon - Between 30% and 50% cases
Cleft lip Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Hypohidrosis Sparse hair Ectodermal dysplasia Micrognathia Intellectual disability Finger syndactyly Oral cleft Sparse eyelashes Pili torti Microdontia Narrow mouth Toe syndactyly Cleft upper lip Midface retrusion Scoliosis Fine hair Hypospadias Alopecia Anodontia Dystrophic toenail Dystrophic fingernails Bifid uvula Abnormality of dental enamel Downslanted palpebral fissures Hypotrichosis Ectrodactyly Hypogonadism Low-set ears Sparse and thin eyebrow Depressed nasal bridge Ventricular septal defect Supernumerary nipple Nail dystrophy Conductive hearing impairment Hearing impairment Pulmonary hypoplasia Protruding ear

Rare Symptoms - Less than 30% cases


Hyperlordosis Brittle hair Neurological speech impairment Scrotal hypoplasia Macrotia Recurrent respiratory infections Wide intermamillary distance Abnormality of dental morphology Bilateral single transverse palmar creases Synophrys EEG abnormality Abnormality of the dentition Highly arched eyebrow Carious teeth Cutaneous syndactyly of toes Abnormality of the ear Palmoplantar keratoderma Selective tooth agenesis Frontal bossing Intellectual disability, mild Short nose Hyperconvex nail Ankyloblepharon Skeletal dysplasia Conical tooth Hip dislocation Widely spaced teeth Recurrent otitis media Small nail Hypoplasia of the maxilla Clinodactyly of the 5th finger Cutaneous finger syndactyly Congenital hip dislocation Dislocated radial head Thin skin Microtia Clinodactyly Talipes equinovarus Hypertelorism Anhidrosis Global developmental delay Abnormality of the philtrum Sparse lateral eyebrow Bilateral cleft lip and palate Abnormality of the ureter Progressive hypotrichosis Palmoplantar hyperkeratosis Seizures Aplasia/Hypoplasia of the eyebrow Edema Micromelia Conjunctivitis Ptosis Ascites Bowing of the long bones Lacrimal duct atresia Short long bone Thoracic hypoplasia Agenesis of permanent teeth Split hand Camptodactyly Hydrops fetalis Short distal phalanx of finger Bipartite calcaneus Capitate-hamate fusion Wide nose Broad nasal tip Talipes Joint hyperflexibility Broad distal phalanx of the thumb Genu valgum Platyspondyly Accessory carpal bones Multiple impacted teeth Osteoarthritis Short 3rd metacarpal Abnormality of epiphysis morphology Abnormality of the tarsal bones Abnormal vertebral segmentation and fusion Hypoplastic frontal sinuses Joint dislocation Genu varum Epiphyseal dysplasia Stridor Metaphyseal irregularity Flared metaphysis Abnormal joint morphology Absent frontal sinuses Thoracic scoliosis Joint laxity Elevated serum creatine phosphokinase Pes planus Otitis externa Blepharitis Absent eyelashes Chronic sinusitis Trismus Heat intolerance Skin erosion Plantar hyperkeratosis Orthokeratosis Oval face Patchy alopecia Bilateral choanal atresia 3-4 toe syndactyly Fibrous syngnathia Vaginal dryness Generalized hypotonia Limited knee flexion Lateral femoral bowing Kyphoscoliosis Osteoporosis Irregular vertebral endplates Thick skull base Bulbous tips of toes Kyphosis Atrial septal defect Muscle weakness Short neck Anteverted nares Long second metacarpal Macrocephaly Muscular hypotonia Abnormal facial shape Tracheomalacia Upper airway obstruction Soft skin Short palm Abnormality of the metacarpal bones Oligodontia Sandal gap Finger clinodactyly Abnormality of the patella Posterior scalloping of vertebral bodies Coxa valga Increased bone mineral density Short thumb Broad thumb Keratoconjunctivitis sicca Omphalocele Slender metacarpals Limitation of joint mobility Flat face Prominent supraorbital ridges Streaky metaphyseal sclerosis Caudal interpedicular narrowing Slender distal phalanx of finger Long distal phalanx of finger Abnormal calcification of the carpal bones Long proximal phalanx of finger Delayed phalangeal epiphyseal ossification Microcephaly Narrow femoral neck Growth delay Abnormality of the skeletal system Pectus excavatum Severe short stature Delayed patellar ossification Broad forehead Abnormality of the genitourinary system Elbow dislocation Thoracolumbar scoliosis Hypoplasia of the capital femoral epiphysis Flat capital femoral epiphysis Thoracolumbar kyphosis Enlarged thorax Broad distal phalanx of finger Carpal bone hypoplasia Short 5th metacarpal Irregular epiphyses Inspiratory stridor Small epiphyses Generalized osteoporosis Spondyloepimetaphyseal dysplasia Slender proximal phalanx of finger Generalized joint laxity Delayed epiphyseal ossification Spinal dysraphism Delayed closure of the anterior fontanelle Proximal placement of thumb Laryngotracheomalacia Broad hallux Prominent occiput Limited elbow extension Large joint dislocations Narrow vertebral interpedicular distance Thickened calvaria Synostosis of carpal bones Abnormal sacrum morphology Short hallux Short 4th metacarpal Abnormal bone ossification Bifid tongue Laryngeal stenosis Broad face Pustule Underdeveloped nasal alae Sparse body hair Short ribs Thoracic dysplasia Flat acetabular roof Hypoplastic scapulae Cystic hygroma Mesomelia Polycystic kidney dysplasia Renal hypoplasia Short lingual frenulum Limb undergrowth Renal cyst Postaxial polydactyly Hepatic failure Narrow chest Dolichocephaly Bilateral postaxial polydactyly Fused teeth Renal insufficiency Pterygium Deeply set eye Posteriorly rotated ears Abnormality of cardiovascular system morphology Intrauterine growth retardation Anteverted ears Scaling skin Hypoplasia of the zygomatic bone Short uvula Bilateral cleft lip Abnormal dermatoglyphics Sparse scalp hair Triangular face Abnormality of the kidney Hyperhidrosis Polydactyly Respiratory insufficiency Short philtrum Split foot Tetralogy of Fallot Paresthesia Pulmonic stenosis Photophobia Arrhythmia Strabismus Hypoplastic nipples Abnormality of the nail Gonadal dysgenesis Hallux valgus Hypergonadotropic hypogonadism Joint contracture of the hand Primary amenorrhea Amenorrhea Lymphedema Hemangioma Brachydactyly Abnormality of the amniotic fluid Epicanthus High palate Hyperkeratosis over edematous areas Hypoplasia of lymphatic vessels Predominantly lower limb lymphedema Chylous ascites Distichiasis Pleural effusion Hypoproteinemia Nonimmune hydrops fetalis Varicose veins Hydrocele testis Edema of the lower limbs Cellulitis Coloboma Prominent nasal bridge Anonychia Pili canaliculi Pain Failure to thrive Decreased number of sweat glands Progressive alopecia Small, conical teeth Submucous cleft soft palate Absent lacrimal punctum Patent ductus arteriosus Hyperconvex fingernails Trichodysplasia Velopharyngeal insufficiency Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Cystic renal dysplasia Feeding difficulties Hyperkeratosis Thick nail Sinusitis 2-3 toe syndactyly Hammertoe Erythroderma Atresia of the external auditory canal Increased body weight Hoarse voice Hyperpigmentation of the skin Micropenis Choanal atresia Inflammatory abnormality of the skin Otitis media Sepsis Scarring Abnormality of the nervous system Dry hair Hypoplastic labia majora Single transverse palmar crease Triphalangeal thumb Sprengel anomaly Fibular hypoplasia Aplasia/Hypoplasia of the radius Oligodactyly Short humerus Overlapping toe Radioulnar synostosis Abnormality of the uterus Abnormality of pelvic girdle bone morphology Renal hypoplasia/aplasia Microretrognathia Wide anterior fontanel Abnormal form of the vertebral bodies Prominent nose Short tibia 11 pairs of ribs Narrow nose Delayed eruption of teeth Generalized hyperpigmentation Submucous cleft hard palate Non-midline cleft lip Abnormality of the voice Coarse hair Renal dysplasia High forehead Aqueductal stenosis Absent forearm Deep-set nails Aplasia/Hypoplasia of the ulna Arrhinencephaly Phocomelia Hand oligodactyly Abnormality of the fifth metatarsal bone



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