Abnormal facial shape, and Nail dysplasia

Diseases related with Abnormal facial shape and Nail dysplasia

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


Top matches:

Low match SCHÖPF-SCHULZ-PASSARGE SYNDROME


Schöpf-Schulz-Passarge syndrome (SSPS) is a rare autosomal recessive ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy.

SCHÖPF-SCHULZ-PASSARGE SYNDROME Is also known as palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome|keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis|eccrine tumors with ectodermal dysplasia|ssps|palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypot

Related symptoms:

  • Neoplasm
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis
  • Carcinoma


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SCHÖPF-SCHULZ-PASSARGE SYNDROME

Low match SCLEROSTEOSIS 2; SOST2


Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Macrocephaly
  • Gait disturbance
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SCLEROSTEOSIS 2; SOST2

Low match AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME


Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.

AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME Is also known as ddod syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME

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Other less relevant matches:

Low match ANAUXETIC DYSPLASIA


Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. Vertebrae are ovoid with concave dorsal surfaces in the lumbar region and show delayed bone maturation. Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. The first and fifth metacarpals are short and wide with small, late-ossifying epiphyses and bullet-shaped middle phalanges (summary by Barraza-Garcia et al., 2017).For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (OMIM ).

ANAUXETIC DYSPLASIA Is also known as spondyloepimetaphyseal dysplasia, menger type|spondyloepimetaphyseal dysplasia, anauxetic type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about ANAUXETIC DYSPLASIA

Low match URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU


URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU Is also known as faciocardiomusculoskeletal syndrome, uruguay type|fcms

Related symptoms:

  • Scoliosis
  • Low-set ears
  • Downslanted palpebral fissures
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU

Low match X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE


X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.

X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE Is also known as mrxs30|mental retardation, x-linked, syndromic 30|x-linked intellectual disability-nail dystrophy-seizures syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Depressed nasal bridge
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NASCIMENTO TYPE

Low match WEAVER SYNDROME


Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

WEAVER SYNDROME Is also known as camptodactyly-overgrowth-unusual facies syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about WEAVER SYNDROME

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 MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB


MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB Is also known as lipodystrophy, type b, associated with mandibuloacral dysplasia

Related symptoms:

  • Growth delay
  • Micrognathia
  • Flexion contracture
  • High palate
  • Abnormality of the skeletal system


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB

Low match CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME


Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.

CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME Is also known as proud syndrome|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|acc with abnormal genitalia|acc-abnormal genitalia syndrome|proud-levine-carpenter syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Nail dysplasia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Midface retrusion Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Nail dystrophy Uncommon - Between 30% and 50% cases
Synophrys Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Nail dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Small nail Scoliosis Prominent supraorbital ridges Sparse hair Retrognathia Macrotia Flexion contracture Downslanted palpebral fissures Alopecia Micrognathia Global developmental delay Ectodermal dysplasia Hypodontia

Rare Symptoms - Less than 30% cases


Deeply set eye Abnormally large globe Inguinal hernia Hypoplasia of teeth Hirsutism Brittle hair Protruding ear Cutaneous finger syndactyly Kyphosis Short stature Pes planus Short neck Toe syndactyly Brachydactyly Malar flattening Growth delay Hyperlordosis Syndactyly Aplasia/Hypoplasia of the eyebrow Palmoplantar hyperkeratosis Cryptorchidism Spasticity Abnormality of the skeletal system High palate Thin nail Bird-like facies Pes cavus Generalized hirsutism Joint stiffness Hearing impairment Hyperhidrosis Hypertelorism Wide intermamillary distance Finger syndactyly Abnormal dermatoglyphics Sparse eyelashes Scrotal hypoplasia Short nose Abnormality of dental morphology Abnormality of dental enamel Bilateral single transverse palmar creases Progressive hypotrichosis Abnormality of the philtrum Cutaneous syndactyly of toes Dystrophic fingernails Sparse lateral eyebrow Dystrophic toenail Anodontia Abnormality of the ear Bilateral cleft lip and palate Abnormality of the ureter Bilateral cleft lip Hypoplasia of the zygomatic bone Pili torti Hypogonadism Sparse and thin eyebrow Tall stature Large hands Redundant skin Deep philtrum Sandal gap Accelerated skeletal maturation Abnormality of the fingernails Hoarse voice Broad thumb Broad foot Abnormality of the metaphysis Fine hair Hypoplasia of penis Round face Joint hyperflexibility Broad forehead Camptodactyly of finger Hypoplastic toenails Deep-set nails Hypohidrosis Neurological speech impairment Sparse scalp hair Microdontia Triangular face Highly arched eyebrow Oral cleft Cleft upper lip Carious teeth Abnormality of the kidney Abnormally low-pitched voice Cleft lip EEG abnormality Proptosis Recurrent respiratory infections Abnormality of the dentition Wide nasal bridge Cleft palate Narrow mouth Neoplasm Postnatal growth retardation Microcephaly Hypospadias Intellectual disability, severe Optic atrophy Motor delay Visual impairment Strabismus Nystagmus Facial shape deformation Hyperactivity Decreased adipose tissue around neck Abnormal tongue morphology Loss of truncal subcutaneous adipose tissue Increased circulating free fatty acid level Increased subcutaneous truncal adipose tissue Reduced intrathoracic adipose tissue Prominent superficial blood vessels Agenesis of corpus callosum Cerebral cortical atrophy Acroosteolysis of distal phalanges (feet) Lissencephaly Broad alveolar ridges Limb joint contracture Abnormal hair pattern Infantile spasms Abnormality of the hip bone Overlapping toe Renal hypoplasia/aplasia Intellectual disability, progressive Coarse facial features Low anterior hairline Renal dysplasia Abnormality of the genital system Spastic tetraplegia Tetraplegia Tapered finger Severe global developmental delay Neonatal hypotonia Progressive clavicular acroosteolysis Increased intraabdominal fat Abnormality of skin pigmentation Insulin resistance Hyperinsulinemia Dermal atrophy Hypercholesterolemia Hyperlipidemia Acanthosis nigricans Short chin Wormian bones Short phalanx of finger Hyperglycemia Dental crowding Thin skin Hypertriglyceridemia Epidermal acanthosis Convex nasal ridge Premature birth Full cheeks Lipodystrophy Glucose intolerance Increased adipose tissue around the neck Abnormality of hair texture Loss of facial adipose tissue Osteolytic defects of the distal phalanges of the hand Contractures of the large joints Mottled pigmentation Loss of subcutaneous adipose tissue in limbs Generalized lipodystrophy Narrow nasal ridge Poor wound healing Delayed cranial suture closure Abnormality of the neck Hypoplastic fingernail Osteolytic defects of the phalanges of the hand Narrow nose Premature loss of teeth Insulin-resistant diabetes mellitus Short clavicles Lipoatrophy Feeding difficulties in infancy Short foot Low-set, posteriorly rotated ears Triphalangeal thumb Severe sensorineural hearing impairment Aplasia cutis congenita Abnormality of digit Agenesis of permanent teeth Anonychia Congenital sensorineural hearing impairment Abnormality of the hand High-frequency hearing impairment Reduced number of teeth Oligodontia Gingival overgrowth Hypertrichosis Bilateral sensorineural hearing impairment Hypotelorism Conical tooth Selective tooth agenesis Joint hypermobility Macroglossia Relative macrocephaly Coxa vara Coxa valga Elbow flexion contracture Lumbar hyperlordosis Limb undergrowth Joint laxity Anhidrotic ectodermal dysplasia Skeletal dysplasia Kyphoscoliosis Severe short stature Delayed skeletal maturation Bilateral triphalangeal thumbs Hidrotic ectodermal dysplasia Absent toenail Short distal phalanx of finger Dolichocephaly Cone-shaped epiphysis Renal cell carcinoma Facial telangiectasia Plantar hyperkeratosis Toenail dysplasia Premature loss of primary teeth Ridged nail Onycholysis Ovarian neoplasm Abnormality of primary teeth Basal cell carcinoma Squamous cell carcinoma Palmoplantar keratoderma Hypotrichosis Abnormality of the eye Carcinoma Hyperkeratosis Trichodysplasia Narrow nail High forehead Overgrowth Sensorineural hearing impairment Sclerotic vertebral endplates Short finger Hyperostosis Increased intracranial pressure Tetraparesis Dental malocclusion Apocrine hidrocystoma Facial asymmetry Facial palsy Mandibular prognathia Gait ataxia Frontal bossing Gait disturbance Poroma Cubitus valgus Metaphyseal irregularity Abnormality of cardiovascular system morphology Upslanted palpebral fissure Dry skin Poor speech Leukemia Wide mouth Aggressive behavior Micropenis Absent speech Downturned corners of mouth Depressed nasal bridge Dislocation of toes Pugilistic facies Marked muscular hypertrophy Broad nail Progressive pes cavus Thin vermilion border Hypopigmentation of the skin Hyperplasia of the maxilla Abnormal hair whorl Long philtrum Hypertonia Talipes equinovarus Hypointensity of cerebral white matter on MRI Regional abnormality of skin Almond-shaped palpebral fissure Spotty hypopigmentation Low posterior hairline Broad face Echolalia Broad neck Acute myeloid leukemia Myeloid leukemia Broad hallux Increased body weight Camptodactyly of toe Brachyturricephaly Short femoral neck Hypoplasia of the capital femoral epiphysis Low-set ears Cervical spine instability Hypoplastic iliac body Hypoplasia of the femoral head Increased vertebral height Thoracolumbar kyphoscoliosis Delayed ossification of carpal bones Congestive heart failure Shield chest Spondyloepimetaphyseal dysplasia Hypoplastic ilia Broad ribs Ovoid vertebral bodies Thoracolumbar scoliosis Metaphyseal dysplasia Cardiomyopathy Elevated serum creatine phosphokinase Limited elbow movement Joint contracture of the hand Eclabion Broad palm Hallux valgus Skeletal muscle hypertrophy Abnormality of the voice Congenital hip dislocation Mitral regurgitation Posteriorly rotated ears Ventricular hypertrophy Prominent nose Everted lower lip vermilion Wide nose Hip dislocation Hypertrophic cardiomyopathy Difficulty walking Hyperconvex nail



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