Brachydactyly, and Facial palsy
Diseases related with Brachydactyly and Facial palsy
In the following list you will find some of the most common rare diseases related to Brachydactyly and Facial palsy that can help you solving undiagnosed cases.
Top matches:
Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.
MOEBIUS SYNDROME Is also known as mÖbius syndrome|congenital facial diplegia
Related symptoms:
- Hearing impairment
- Micrognathia
- Strabismus
- Muscular hypotonia
- Cleft palate
SOURCES:
ORPHANET
MENDELIAN
More info about MOEBIUS SYNDROME
Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.
CAREY-FINEMAN-ZITER SYNDROME Is also known as myopathy-moebius-robin syndrome|myopathy, congenital nonprogressive, with moebius sequence and robin sequence
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
SOURCES:
MESH
OMIM
ORPHANET
MENDELIAN
More info about CAREY-FINEMAN-ZITER SYNDROME
Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.
LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM Is also known as lenz-majewski syndrome
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
SOURCES:
ORPHANET
MESH
OMIM
MENDELIAN
More info about LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM
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Other less relevant matches:
BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies
Related symptoms:
- Intellectual disability
- Hearing impairment
- Microcephaly
- Scoliosis
- Ataxia
SOURCES:
OMIM
MENDELIAN
More info about BASAL CELL NEVUS SYNDROME; BCNS
CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).
CHARGE SYNDROME Is also known as charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies|hhs|charge association|coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|hall
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
OMIM
ORPHANET
MESH
MENDELIAN
More info about CHARGE SYNDROME
Roberts syndrome is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, and cardiac and renal abnormalities (summary by Goh et al., 2010).
ROBERTS SYNDROME; RBS Is also known as long bone deficiencies associated with cleft lip-palate
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
SOURCES:
OMIM
MENDELIAN
More info about ROBERTS SYNDROME; RBS
Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.
COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about COWDEN SYNDROME
Fanconi anemia is characterized by genomic instability, increased susceptibility to cancer development, and bone marrow failure associated with various developmental abnormalities, such as radial ray anomalies or short stature (summary by Hira et al., 2015).For a discussion of genetic heterogeneity of Fanconi anemia, see FANCA (OMIM ).
Related symptoms:
- Short stature
- Neoplasm
- Anemia
- Thrombocytopenia
- Polydactyly
SOURCES:
OMIM
MENDELIAN
More info about FANCONI ANEMIA, COMPLEMENTATION GROUP T; FANCT
1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.
1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
ORPHANET
OMIM
MESH
MENDELIAN
More info about 1P36 DELETION SYNDROME
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
Top 5 symptoms//phenotypes associated to Brachydactyly and Facial palsy
Symptoms // Phenotype |
% cases |
Micrognathia |
Common - Between 50% and 80% cases
|
Short stature |
Common - Between 50% and 80% cases
|
Cleft palate |
Common - Between 50% and 80% cases
|
Intellectual disability |
Common - Between 50% and 80% cases
|
Hypertelorism |
Common - Between 50% and 80% cases
|
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Other less frequent symptoms
Patients with Brachydactyly and Facial palsy. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Hearing impairment
Uncommon Symptoms - Between 30% and 50% cases
Global developmental delay
Common Symptoms - More than 50% cases
Hydrocephalus
Uncommon Symptoms - Between 30% and 50% cases
Cryptorchidism
Common Symptoms - More than 50% cases
Cranial nerve paralysis
Uncommon Symptoms - Between 30% and 50% cases
Scoliosis
Common Symptoms - More than 50% cases
Downslanted palpebral fissures
Uncommon Symptoms - Between 30% and 50% cases
Microcephaly
Common Symptoms - More than 50% cases
High palate
Uncommon Symptoms - Between 30% and 50% cases
Frontal bossing
Generalized hypotonia
Strabismus
Muscular hypotonia
Syndactyly
Growth delay
Macrocephaly
Atrial septal defect
Failure to thrive
Epicanthus
Hypospadias
Autism
Mandibular prognathia
Retrognathia
Cataract
Abnormality of the skeletal system
Talipes equinovarus
Motor delay
Coloboma
Cleft upper lip
Dysphagia
Seizures
Sensorineural hearing impairment
Kyphosis
Relative macrocephaly
Talipes
Gastroesophageal reflux
Abnormal cardiac septum morphology
Paralysis
Hydronephrosis
Neoplasm
Prominent forehead
Malar flattening
Abnormality of the kidney
Low-set ears
Hand polydactyly
Hypothyroidism
Narrow mouth
Patent ductus arteriosus
Midface retrusion
Ventricular septal defect
Hypogonadism
Abnormality of the ribs
Cleft lip
Microphthalmia
Wide nasal bridge
Increased intracranial pressure
Sparse hair
Proptosis
Polyhydramnios
Brachycephaly
Hypogonadotrophic hypogonadism
Anteverted nares
Muscle weakness
Skeletal muscle atrophy
Ptosis
Depressed nasal bridge
Feeding difficulties
Ventriculomegaly
Clinodactyly of the 5th finger
Myopathy
Long philtrum
Feeding difficulties in infancy
Rare Symptoms - Less than 30% cases
Optic atrophy
Abnormality of the neck
Immunodeficiency
Exotropia
Hemivertebrae
Neoplasm of the skin
Down-sloping shoulders
Skin tags
Gait disturbance
Astrocytoma
Behavioral abnormality
Hamartomatous polyposis
Fibroma
Ovarian carcinoma
Bifid ribs
Ophthalmoplegia
Nystagmus
Absent speech
Palmoplantar keratoderma
Multiple cafe-au-lait spots
Delayed cranial suture closure
External genital hypoplasia
Absent septum pellucidum
Anteriorly placed anus
Submucous cleft hard palate
Choanal stenosis
Abnormality of the penis
Ataxia
Pain
Mask-like facies
Iris coloboma
Pectus excavatum
Visual loss
Tetraparesis
Glaucoma
Polydactyly
EEG abnormality
Carcinoma
Reduced number of teeth
Papule
Oral cleft
Abnormality of cardiovascular system morphology
Low-set, posteriorly rotated ears
Corneal opacity
Thrombocytopenia
Polymicrogyria
Narrow naris
Leukemia
Aortic arch aneurysm
Myopia
Delayed speech and language development
Cognitive impairment
Visual impairment
Clinodactyly
Telangiectasia
Posteriorly rotated ears
Renal cyst
Cafe-au-lait spot
Biliary tract abnormality
Melanoma
Long penis
Clitoral hypertrophy
Cystic hygroma
Overgrowth
Eyelid coloboma
Micropenis
Facial asymmetry
Finger syndactyly
Conductive hearing impairment
Hyperostosis
Abnormality of the eye
Postnatal growth retardation
Abnormality of the pinna
Microtia
Prominent nasal bridge
Renal agenesis
Macule
Tetralogy of Fallot
Small nail
Abnormality of the genital system
Short thumb
Lymphopenia
Horseshoe kidney
Abnormality of vision
Acute myeloid leukemia
Absent radius
Cutis marmorata
Melanocytic nevus
Aplasia/Hypoplasia of the tongue
Bilateral talipes equinovarus
Cerebral cortical atrophy
Abnormality of the sense of smell
Plagiocephaly
Elbow flexion contracture
Carious teeth
Kyphoscoliosis
Aplasia/Hypoplasia of the cerebellum
Intellectual disability, moderate
Cerebral calcification
Large fontanelles
Choanal atresia
Hip dysplasia
Bifid uvula
Macroglossia
Delayed eruption of teeth
Aplasia of the pectoralis major muscle
Heterotopia
Microglossia
Knee flexion contracture
Short neck
Respiratory insufficiency
Delayed skeletal maturation
Flexion contracture
Pneumonia
Agenesis of corpus callosum
Hernia
Intrauterine growth retardation
Abnormal facial shape
Abnormality of the dentition
Intellectual disability, mild
Cutaneous syndactyly
Abnormality of the metacarpal bones
Hydrocele testis
Meningioma
Abnormality of the optic disc
Expressive language delay
Arteriovenous malformation
Megalencephaly
Abnormality of brain morphology
Abnormal renal physiology
Prolactin excess
Abnormality of the uterus
Papilledema
Abnormality of the vasculature
Progressive macrocephaly
Lipoma
Scaphocephaly
Hashimoto thyroiditis
Renal cell carcinoma
Hodgkin lymphoma
Thyroiditis
Ovarian neoplasm
Hyperthyroidism
Hamartoma
Furrowed tongue
Bone cyst
Abnormality of the anus
Neoplasm of the central nervous system
Varicocele
Abnormality of chromosome stability
Thyroid adenoma
Cavum septum pellucidum
Intestinal polyp
Angioid streaks of the fundus
Periventricular leukomalacia
Follicular thyroid carcinoma
Subcutaneous lipoma
Colonic diverticula
Adenoma sebaceum
Decreased proportion of CD4-positive T cells
Abnormal corpus callosum morphology
Ovarian cyst
Generalized hyperkeratosis
Impaired social interactions
Endometrial carcinoma
Papilloma
Enlarged polycystic ovaries
Colorectal polyposis
Abnormality of female external genitalia
Cavernous hemangioma
Abnormality of the mandible
Cellular immunodeficiency
Gastric ulcer
Abnormal left ventricle morphology
Intestinal polyposis
Lambdoidal craniosynostosis
Palmoplantar hyperkeratosis
Annular pancreas
Bilateral renal agenesis
Premature separation of centromeric heterochromatin
Midface capillary hemangioma
Enlarged labia minora
Tetraphocomelia
Bilateral radial aplasia
Intermittent thrombocytopenia
Frontal encephalocele
Absent earlobe
Talipes equinovalgus
Noncompaction cardiomyopathy
Asymmetry of the ears
Aplasia of the ulna
Oppositional defiant disorder
Triangular mouth
Abnormality of the hairline
Congenital talipes calcaneovalgus
Widened subarachnoid space
Bilateral cleft lip
Low hanging columella
Bilateral cleft lip and palate
Bicornuate uterus
Ebstein anomaly of the tricuspid valve
Subvalvular aortic stenosis
Bilobate gallbladder
Accessory spleen
Hypoplastic female external genitalia
Hand oligodactyly
Phocomelia
Hydranencephaly
Wrist flexion contracture
Craniofacial dysostosis
Cranial nerve VI palsy
Tremor
Cellulitis
Horizontal eyebrow
Multiple lipomas
Abnormality of the thyroid gland
Muscle flaccidity
Intracranial hemorrhage
Dysdiadochokinesis
Incoordination
Hypoplastic labia minora
Goiter
Breast carcinoma
Hypopigmented skin patches
Hemangioma
Drooling
Gynecomastia
Chronic diarrhea
Subcutaneous nodule
Diarrhea
Joint hypermobility
Headache
Abnormal social behavior
Dilatation
Recurrent infections
Proximal muscle weakness
Nausea and vomiting
Talipes valgus
Broad thumb
Hypoplasia of the maxilla
Abnormal cerebellum morphology
Lymphoma
Decreased antibody level in blood
Abnormal external genitalia
Intention tremor
Pseudopapilledema
Hiatus hernia
Cutaneous finger syndactyly
Abnormality of the renal pelvis
Leukoencephalopathy
Hypercholesterolemia
Abnormal intestine morphology
Spastic tetraparesis
Narrow palpebral fissure
Generalized hirsutism
Pointed chin
Wide anterior fontanel
Short phalanx of finger
Stereotypy
Decreased body weight
Pachygyria
Mitral regurgitation
Short 5th finger
Missing ribs
Aplasia/Hypoplasia of the corpus callosum
11 pairs of ribs
Coarctation of aorta
Gait ataxia
Hypsarrhythmia
Interphalangeal joint contracture of finger
Abnormality of the testis
Ventricular hypertrophy
Shallow orbits
Solitary renal cyst
Lower limb asymmetry
Optic nerve coloboma
Abnormality of the gastrointestinal tract
Agenesis of the anterior commissure
Depressed nasal ridge
Hypertrichosis
Bicuspid aortic valve
Sacral dimple
Dilation of lateral ventricles
Telangiectasia of the skin
Self-mutilation
Arnold-Chiari type I malformation
Abnormality of the cerebral ventricles
Overweight
Epileptic spasms
Abnormal lung lobation
Foot polydactyly
Spinal canal stenosis
Coronal craniosynostosis
Ocular albinism
Aortic root aneurysm
Congenital hypothyroidism
Neuroblastoma
Slender long bone
Abnormality of the immune system
Scrotal hypoplasia
Congenital sensorineural hearing impairment
Infantile muscular hypotonia
Delayed gross motor development
Pyloric stenosis
Patent foramen ovale
Failure to thrive in infancy
Self-injurious behavior
Hemiplegia/hemiparesis
Abnormal heart valve morphology
Metatarsus adductus
Dysphasia
Hypermelanotic macule
Polyphagia
High hypermetropia
Infantile spasms
Optic disc pallor
Delayed CNS myelination
Colpocephaly
Merkel cell skin cancer
Cerebral atrophy
Cardiomyopathy
Hypoplasia of the corpus callosum
Rib fusion
Duplication of thumb phalanx
Refractory anemia
Hyperplastic labia majora
Myeloid leukemia
Preaxial hand polydactyly
Bone marrow hypocellularity
Pancytopenia
Anemia
Lobular carcinoma in situ
Multiple trichilemmomata
Ductal carcinoma in situ
Constipation
Transitional cell carcinoma of the bladder
Mucosal telangiectasiae
Short finger
Thickened helices
Abnormal eyebrow morphology
Nail dysplasia
Acrokeratosis
Neoplasm of the thyroid gland
Conjunctival hamartoma
Fibroadenoma of the breast
Cutis marmorata telangiectatica congenita
Enlarged cerebellum
Trichilemmoma
Dysplastic gangliocytoma of the cerebellum
Aplasia/Hypoplasia involving bones of the feet
Obesity
Delayed closure of the anterior fontanelle
Volvulus
Synophrys
Hypoplasia of penis
Redundant neck skin
Abnormal blistering of the skin
Epileptic encephalopathy
Dental malocclusion
Abnormality of the skin
Intestinal malrotation
Delayed myelination
Brain atrophy
Short foot
Hepatic steatosis
Left ventricular noncompaction
Poor speech
Abnormal parietal bone morphology
Hypermetropia
Pes cavus
Joint stiffness
Abnormality of the spleen
Upslanted palpebral fissure
Deeply set eye
Neonatal hypotonia
Aggressive behavior
Camptodactyly
Abnormality of the liver
Abnormality of the femoral neck
Blepharophimosis
Camptodactyly of finger
Neurological speech impairment
Small for gestational age
Dilated cardiomyopathy
Abnormality of the cerebral white matter
Upper limb undergrowth
Laryngomalacia
Severe intrauterine growth retardation
Chordee
Absent axillary hair
Elbow ankylosis
Aplasia of the middle phalanx of the hand
Aplasia/Hypoplasia of the middle phalanges of the hand
Hyperconvex fingernails
Cranial hyperostosis
Sclerosis of skull base
Delayed eruption of permanent teeth
Abnormal nasolacrimal system morphology
Lacrimal duct stenosis
Humeroradial synostosis
Epispadias
Aplastic clavicle
Diaphyseal thickening
Nasolacrimal duct obstruction
Broad clavicles
Premature skin wrinkling
Aplasia/Hypoplasia of the skin
Thickened calvaria
Prematurely aged appearance
Osteopetrosis
Abnormality of finger
Progeroid facial appearance
Hypoplastic fingernail
Femoral hernia
Broad ribs
Prominent superficial veins
Abnormal cortical bone morphology
Symphalangism affecting the phalanges of the hand
Generalized osteosclerosis
Hyperextensibility of the finger joints
Calvarial hyperostosis
Proximal symphalangism
Limited elbow extension
Hypotension
Long fingers
Basal cell carcinoma
Milia
Disproportionate tall stature
Inflammation of the large intestine
Nephritis
Glomerulonephritis
Spina bifida occulta
Muscle stiffness
Short ribs
Spina bifida
Bradycardia
Hyperpigmentation of the skin
Hemiparesis
Nevus
Proximal symphalangism of hands
Spasticity
Prominent scalp veins
Facial hyperostosis
Exodeviation
Lumbar kyphoscoliosis
Progressive sclerosis of skull base
Stiff finger
Dysarthria
Postaxial polydactyly
Abdominal pain
Coarse facial features
Proteinuria
Telecanthus
Hypotrichosis
Arachnodactyly
Reduced subcutaneous adipose tissue
Flared metaphysis
Vertebral fusion
Hyperhidrosis
Facial diplegia
Pierre-Robin sequence
Ankylosis
Glossoptosis
Hypoventilation
Ulnar deviation of finger
Restrictive ventilatory defect
Hypoplasia of the brainstem
Severe muscular hypotonia
Abnormal lung morphology
Decreased fetal movement
Broad nasal tip
Tapered finger
Thin vermilion border
Elevated serum creatine phosphokinase
Flushing
Aplasia/Hypoplasia of the radius
Arthrogryposis multiplex congenita
Everted lower lip vermilion
Microdontia
Open mouth
Abnormality of the voice
Aplasia/Hypoplasia of the thumb
Blepharitis
Short nose
Abnormality of the ulna
Breast aplasia
Absent hand
Aplasia/Hypoplasia involving the metacarpal bones
Hypertension
Respiratory distress
Trismus
Villous atrophy
Short middle phalanx of finger
Joint hyperflexibility
Redundant skin
Dermal atrophy
Cutis laxa
Abnormality of dental enamel
Increased bone mineral density
Short toe
Hypoplasia of dental enamel
Thin skin
Abnormality of the metaphysis
Specific learning disability
Limitation of joint mobility
High, narrow palate
Thick vermilion border
Short palm
Broad forehead
Abnormality of the larynx
Hypertensive crisis
Ulnar deviation of the hand
Hypoplasia of the musculature
Oculomotor nerve palsy
Laryngeal stenosis
Nocturnal hypoventilation
Glandular hypospadias
Impaired ocular abduction
Wide mouth
Congenital facial diplegia
Pectoralis hypoplasia
Inguinal hernia
Severe short stature
Macrotia
Joint laxity
Agenesis of permanent teeth
Colitis
Ankle contracture
Abnormality of tibia morphology
Abnormality of the cervical spine
Arrhinencephaly
Dimple chin
Interrupted aortic arch
Abnormality of female internal genitalia
Microphallus
Lacrimation abnormality
Abnormal aortic valve morphology
Peripheral pulmonary artery stenosis
Gonadotropin deficiency
Anterior hypopituitarism
Aplasia/Hypoplasia of the earlobes
Aqueductal stenosis
Labial hypoplasia
Hyposmia
Abnormality of the thymus
Double outlet right ventricle
Broad palm
Weak cry
Abnormality of immune system physiology
Anal stenosis
Esophageal atresia
External ear malformation
Broad neck
Tics
Hypoplasia of the zygomatic bone
Abnormal cranial nerve morphology
Abnormally large globe
Duodenal atresia
Retinal coloboma
Facial paralysis
Lop ear
Bilateral choanal atresia
Vestibular dysfunction
Short philtrum
Fibular hypoplasia
Oligodactyly
Short femoral neck
Anonychia
Radial deviation of finger
Polycystic kidney dysplasia
Eosinophilia
Opacification of the corneal stroma
Recurrent urinary tract infections
Encephalocele
Blue sclerae
Oligohydramnios
Convex nasal ridge
Underdeveloped nasal alae
Craniosynostosis
Abnormality of the adrenal glands
Hand monodactyly
Abnormality of bone mineral density
Abnormal palmar dermatoglyphics
Square face
Abnormality of the inner ear
Aplasia/Hypoplasia of the thymus
Unilateral facial palsy
Hypoplasia of the cochlea
Skeletal dysplasia
Bifid femur
Abnormal soft palate morphology
Parathyroid hypoplasia
Hypoplasia of the semicircular canal
Parachute mitral valve
Posterior choanal atresia
Mixed hearing impairment
Hypoplasia of the ulna
Abnormality of the sternum
Severe hydrocephalus
Hamartomatous stomach polyps
Irregular ossification of hand bones
Cardiac fibroma
Bridged sella turcica
Plantar pits
Ovarian fibroma
Odontogenic keratocysts of the jaw
Cardiac rhabdomyoma
Curved fingers
Histiocytoma
Calcification of falx cerebri
Orbital cyst
Palmar pits
Short distal phalanx of the thumb
Multiple impacted teeth
Abnormal heart morphology
Broad face
Thoracic scoliosis
Sprengel anomaly
Narrow nose
Fragile nails
Short 4th metacarpal
Neoplasm of the endocrine system
Ulcerative colitis
Parietal bossing
Brain neoplasm
Medulloblastoma
Ectopic calcification
Supernumerary ribs
Cervical ribs
Vertebral wedging
Blindness
Respiratory failure
Tracheoesophageal fistula
Aspiration
Bifid scrotum
Anophthalmia
Cupped ear
Obsessive-compulsive behavior
Chorioretinal coloboma
Overfolded helix
Abnormality of the urinary system
Anosmia
Abnormality of the outer ear
Torticollis
Holoprosencephaly
Short chin
Hypocalcemia
Narrow face
Preauricular skin tag
Umbilical hernia
Anal atresia
Photophobia
Apnea
Attention deficit hyperactivity disorder
Pectus carinatum
Pulmonic stenosis
Delayed puberty
Highly arched eyebrow
Renal dysplasia
Vesicoureteral reflux
Growth hormone deficiency
Webbed neck
Dandy-Walker malformation
Renal hypoplasia
Omphalocele
Sclerotic vertebral endplates
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