Cleft palate, and Small nail

Diseases related with Cleft palate and Small nail

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


Top matches:

Low match SCHNECKENBECKEN DYSPLASIA


Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

SCHNECKENBECKEN DYSPLASIA Is also known as chondrodysplasia with snail-like pelvis|slc35d1-cdg|chondrodysplasia, lethal neonatal, with snail-like pelvis

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SCHNECKENBECKEN DYSPLASIA

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 HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2


Hyperphosphatasia with mental retardation syndrome-2 is an autosomal recessive disorder characterized by moderately to severely delayed psychomotor development, facial dysmorphism, brachytelephalangy, and increased serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures (summary by Krawitz et al., 2012). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of hyperphosphatasia with mental retardation syndrome, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2 Is also known as glycosylphosphatidylinositol biosynthesis defect 6|gpibd6

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2

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Other less relevant matches:

Low match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Low match HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC


HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

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 DIAPHANOSPONDYLODYSOSTOSIS


Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.

DIAPHANOSPONDYLODYSOSTOSIS Is also known as vertebral ossification, defect in, with nephrogenic rests

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIAPHANOSPONDYLODYSOSTOSIS

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 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2


An extremely rare and severe early-lethal form of Simpson-Golabi-Behmel syndrome. The disease is an overgrowth-multiple anomalies syndrome with characteristics of hydrops fetalis, macrocephaly, facial dysmorphism, short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2

Low match HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME


Hyperphosphatasia with mental retardation syndrome-1 is an autosomal recessive disorder characterized by mental retardation, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by Krawitz et al., 2010). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Hyperphosphatasia with Mental Retardation SyndromeSee also HPMRS2 (OMIM ), caused by mutation in the PIGO gene (OMIM ) on chromosome 9p13; HPMRS3 (OMIM ), caused by mutation in the PGAP2 gene (OMIM ) on chromosome 11p15; HPMRS4 (OMIM ), caused by mutation in the PGAP3 gene (OMIM ) on chromosome 17q12; HPMRS5 (OMIM ), caused by mutation in the PIGW gene (OMIM ) on chromosome 17q12; and HPMRS6 (OMIM ), caused by mutation in the PIGY gene (OMIM ) on chromosome 4q22.Knaus et al. (2018) provided a review of the main clinical features of the different types of HPMRS, noting that some patients have a distinct pattern of facial anomalies that can be detected by computer-assisted comparison, particularly those with mutations in the PIGV and PGAP3 genes. Individuals with HPMRS have variable increased in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between HPMRS and MCAHS (see, e.g., {614080}), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME Is also known as mabry syndrome|glycosylphosphatidylinositol biosynthesis defect 2|gpibd2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Small nail

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Generalized hypotonia Microcephaly Short nose Cleft upper lip Anal atresia Cleft lip Ventricular septal defect Intellectual disability Conical tooth Sparse hair Coarse facial features Severe global developmental delay Hypodontia Ectodermal dysplasia Conductive hearing impairment Short stature Micrognathia Oral cleft Cryptorchidism Syndactyly Intrauterine growth retardation Muscular hypotonia Growth delay Posteriorly rotated ears Macrocephaly Upslanted palpebral fissure Seizures

Rare Symptoms - Less than 30% cases


Widely spaced teeth Shortening of all distal phalanges of the fingers Long palpebral fissure Epicanthus Low-set ears Recurrent otitis media Supernumerary nipple Anonychia Hyperconvex nail Tented upper lip vermilion Plagiocephaly Aganglionic megacolon Broad nasal tip Ectrodactyly Atrial septal defect Pili torti Cystic renal dysplasia Sparse eyelashes Talipes equinovarus Failure to thrive Webbed neck Inguinal hernia Hypoplasia of the maxilla Palmoplantar keratoderma Pulmonary hypoplasia Hypotrichosis Narrow mouth Alopecia Hypospadias Depressed nasal bridge Hammertoe Non-midline cleft lip Clinodactyly of the 5th finger Sensorineural hearing impairment Micropenis Abnormality of the nervous system Bifid uvula Wide mouth Obesity Renal dysplasia Absent speech Hypohidrosis Hydrocephalus Anteverted nares Fine hair Patent ductus arteriosus Elevated alkaline phosphatase Ankyloblepharon Midface retrusion Clinodactyly Tapered finger High forehead Finger syndactyly Abnormality of the fingernails Choanal atresia Thin upper lip vermilion Intellectual disability, severe Unossified vertebral bodies Hypoplastic toenails Dolichocephaly Abnormality of the dentition Malar flattening Myelomeningocele Brachydactyly Short thorax Nephroblastomatosis Mandibular prognathia Absent or minimally ossified vertebral bodies Oligohydramnios Abnormality of the ribs Abnormal vertebral segmentation and fusion Depressed nasal ridge Large fontanelles Narrow pelvis bone Constipation Facial capillary hemangioma Increased nuchal translucency Missing ribs Thickened nuchal skin fold Thoracic hypoplasia Enlarged thorax U-Shaped upper lip vermilion Vertebral segmentation defect Disproportionate short-trunk short stature Hypoplastic fingernail Tracheomalacia Enlarged kidney Multiple renal cysts Abnormality of the rib cage Bell-shaped thorax Protuberant abdomen Abnormality of the liver Hydronephrosis Anteriorly placed anus Velopharyngeal insufficiency Trichodysplasia Hyperconvex fingernails Absent lacrimal punctum Pili canaliculi Profound global developmental delay Submucous cleft soft palate Small, conical teeth Progressive alopecia Decreased number of sweat glands Thickened helices Abnormally large globe Cupped ear Autistic behavior Infantile muscular hypotonia Respiratory insufficiency Short toe Sparse scalp hair Respiratory distress Highly arched eyebrow Downturned corners of mouth Inability to walk Short distal phalanx of finger Polymicrogyria Short philtrum Abnormal liver lobulation Renal cyst Nephrogenic rest Orthokeratosis Scaphocephaly Sparse body hair Conjunctivitis Atresia of the external auditory canal Wide nose Respiratory tract infection Brittle hair Pneumonia Erythroderma 2-3 toe syndactyly High palate Anhidrosis Agenesis of permanent teeth Otitis externa Vaginal dryness Fibrous syngnathia Hoarse voice Keratoconjunctivitis sicca 3-4 toe syndactyly Bilateral choanal atresia Lacrimal duct atresia Patchy alopecia Oval face Pustule Blepharitis Absent eyelashes Chronic sinusitis Trismus Heat intolerance Selective tooth agenesis Skin erosion Increased body weight Single transverse palmar crease Hyperactive deep tendon reflexes Microtia Lumbosacral meningocele Absent in utero rib ossification Unossified sacrum Plantar hyperkeratosis Intralobar nephroblastomatosis Pain Feeding difficulties Hyperkeratosis Broad palm Short finger Camptodactyly Scarring Radial deviation of finger Nail dystrophy Wide intermamillary distance Deep philtrum Toe syndactyly Sepsis Recurrent upper respiratory tract infections Otitis media Intellectual disability, progressive Multicystic kidney dysplasia Microdontia Congenital hip dislocation Inflammatory abnormality of the skin Split hand Hyperpigmentation of the skin Broad thumb Sinusitis Absent in utero ossification of vertebral bodies Increased serum ferritin Hypohidrotic ectodermal dysplasia Bilateral cleft lip and palate Hypothyroidism Abnormality of the eye Carious teeth Flat face Opacification of the corneal stroma Cutaneous syndactyly Oligodontia Abnormality of vision Reduced number of teeth Ectropion Overfolded helix Vertebral fusion Bilateral cleft lip Abnormal eyelid morphology High anterior hairline Blindness Abnormal hair quantity Distichiasis Unilateral cleft lip Epidermoid cyst Meningoencephalocele Thyroid agenesis Ectropion of lower eyelids Dermoid cyst Euryblepharon Multiple rows of eyelashes Delayed speech and language development Ventriculomegaly Abnormal cardiac septum morphology Pulmonic stenosis Agenesis of corpus callosum Neoplasm Generalized-onset seizure Metaphyseal irregularity Edema Severe short stature Polyhydramnios Skeletal dysplasia Platyspondyly Narrow chest Micromelia Abnormality of the metaphysis Abnormal form of the vertebral bodies Lymphedema Short ribs Spontaneous abortion Accelerated skeletal maturation Disproportionate short-limb short stature Fibular hypoplasia Snail-like ilia Hypoplastic scapulae Flat acetabular roof Ovoid vertebral bodies Hypoplastic ilia Diaphyseal thickening Lateral clavicle hook Vertebral hypoplasia Hypoplastic vertebral bodies Anterior rib cupping Advanced ossification of carpal bones Severe hydrops fetalis Dumbbell-shaped long bone Advanced tarsal ossification Increased fibular diameter Vesicoureteral reflux Broad hallux Anhidrotic ectodermal dysplasia Protruding ear Joint stiffness Congenital cataract Convex nasal ridge Hypoplasia of penis High myopia Bilateral single transverse palmar creases Polycystic ovaries Microcytic anemia Iron deficiency anemia Abnormality of the elbow Ectopic anus Nuclear cataract Pulverulent cataract Ptosis Delayed eruption of teeth Photophobia Underdeveloped nasal alae Thin skin Sparse and thin eyebrow Abnormality of dental enamel Coarse hair Abnormality of the voice Submucous cleft hard palate Generalized hyperpigmentation Narrow nose Hypoplastic labia majora Dystrophic toenail Dystrophic fingernails Thick nail Dry hair Low-set, posteriorly rotated ears Macrotia Anal stenosis Dandy-Walker malformation Peripheral pulmonary artery stenosis Anterior plagiocephaly Perineal fistula Hypoplasia of the corpus callosum Cardiomyopathy Hypertonia Long philtrum Hernia Retrognathia Umbilical hernia Hypertrophic cardiomyopathy Thin vermilion border Macroglossia Delayed myelination Ventricular hypertrophy Abnormality of cardiovascular system morphology Skull asymmetry Downslanted palpebral fissures Myopia Visual impairment Anemia Cataract Strabismus Periorbital fullness Left ventricular hypertrophy Severe failure to thrive Protruding tongue Cutis marmorata Failure to thrive in infancy Lissencephaly Short chin Delayed ossification of carpal bones



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Delayed speech and language development and Ambiguous genitalia, related diseases and genetic alterations Tremor and Limb muscle weakness, related diseases and genetic alterations Low-set ears and Tall stature, related diseases and genetic alterations Ptosis and Proteinuria, related diseases and genetic alterations

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