Brachydactyly, and Gynecomastia

Diseases related with Brachydactyly and Gynecomastia

In the following list you will find some of the most common rare diseases related to Brachydactyly and Gynecomastia that can help you solving undiagnosed cases.


Top matches:

Medium match X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE


X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

Medium match FRANK-TER HAAR SYNDROME


Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.

FRANK-TER HAAR SYNDROME Is also known as ter haar syndrome|borrone dermatocardioskeletal syndrome|melnick-needles syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FRANK-TER HAAR SYNDROME

Medium match TRICHORHINOPHALANGEAL SYNDROME TYPE 2


Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.

TRICHORHINOPHALANGEAL SYNDROME TYPE 2 Is also known as langer-giedion syndrome|deletion 8q24.1|chromosome 8q24.1 deletion syndrome|lgs|monosomy 8q24.1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 2

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Other less relevant matches:

Medium match COWDEN SYNDROME


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

Medium match H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Low match BORJESON-FORSSMAN-LEHMANN SYNDROME


Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.

BORJESON-FORSSMAN-LEHMANN SYNDROME Is also known as mental retardation, x-linked, syndromic, borjeson-forssman-lehmann type|bfls|intellectual disability-epilepsy-endocrine disorders syndrome|borjeson syndrome|mrxsbfl|mental retardation, epilepsy, and endocrine disorders|borj

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BORJESON-FORSSMAN-LEHMANN SYNDROME

Low match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Low match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Low match ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME


Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

Low match ADULT SYNDROME


ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.

ADULT SYNDROME Is also known as acrodermatounguallacrimaltooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome|acro-dermato-ungual-lacrimal-tooth syndrome

Related symptoms:

  • Brachydactyly
  • Wide nasal bridge
  • Abnormality of the dentition
  • Syndactyly
  • Midface retrusion


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ADULT SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Gynecomastia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Deeply set eye Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Gynecomastia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Kyphosis

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Micrognathia Delayed puberty Growth delay Wide nasal bridge Abnormality of the skeletal system Hypogonadism Hypothyroidism Hypergonadotropic hypogonadism Truncal obesity Conductive hearing impairment Abnormality of the pinna Hydrocephalus Cataract Micropenis Failure to thrive Decreased testicular size Intellectual disability, severe Downslanted palpebral fissures Hypertelorism Abnormal facial shape Cryptorchidism Delayed speech and language development Motor delay Skeletal muscle atrophy Macrocephaly Abnormality of the dentition Ventriculomegaly Hypotrichosis Osteolysis Thickened skin Alopecia Clinodactyly Sparse hair Ptosis Macrotia Hip dysplasia Melanocytic nevus Protruding ear Abnormality of the kidney Ataxia Anteverted nares Autism Intellectual disability, mild Full cheeks Cognitive impairment Genu valgum Low-set ears Flexion contracture Growth hormone deficiency Sparse scalp hair Pectus excavatum Syndactyly Polydactyly Camptodactyly Diabetes mellitus Wide intermamillary distance Joint hyperflexibility Peripheral neuropathy Coarse facial features Pes planus Clinodactyly of the 5th finger Intellectual disability, moderate Obesity Oral cleft Hyperpigmentation of the skin Behavioral abnormality Midface retrusion Hyperhidrosis Joint hypermobility Muscular hypotonia Microcephaly High palate

Rare Symptoms - Less than 30% cases


Abnormal palate morphology Scrotal hypoplasia Recurrent urinary tract infections Exotropia Insulin-resistant diabetes mellitus Increased number of teeth Broad foot Oligospermia Metatarsus adductus Short toe Acne Neoplasm Hyperplasia of the maxilla Vesicoureteral reflux Ectodermal dysplasia Nevus Thick eyebrow Finger syndactyly Ketoacidosis Alopecia of scalp Cleft palate Dry skin Low-set, posteriorly rotated ears Poor coordination Agenesis of corpus callosum Prominent nasal bridge Otitis media Delayed skeletal maturation Malar flattening Visual impairment Pain Pneumonia Hypertrichosis Anemia Hepatomegaly Splenomegaly Patent ductus arteriosus Hypertriglyceridemia Epidermal acanthosis Bone cyst Hyperkeratosis Dyspnea Hepatosplenomegaly Retinopathy Cardiomegaly Amenorrhea Lymphadenopathy Sensorineural hearing impairment Ovarian cyst Hypermetropia Dilatation Cleft upper lip Feeding difficulties Frontal bossing Strabismus Atrial septal defect Myopathy Nystagmus Narrow mouth Plagiocephaly Severe sensorineural hearing impairment Hyperglycemia Hypoplasia of the maxilla Overgrowth Telangiectasia Chronic diarrhea Goiter Cholelithiasis Lipodystrophy Osteoporosis Brachycephaly Hirsutism Thick lower lip vermilion Intention tremor Hypospadias Interphalangeal joint contracture of finger Broad forehead Joint stiffness Synophrys Hypoplasia of penis Osteopenia Kyphoscoliosis Proptosis Respiratory failure Toe syndactyly Scaphocephaly Talipes equinovarus Bulbous nose Inguinal hernia Pes cavus Polymicrogyria Macroglossia Gait ataxia Short palm Mandibular prognathia Abnormal heart morphology High forehead EEG abnormality Aggressive behavior Joint laxity Hernia Abnormality of cardiovascular system morphology Congestive heart failure Narrow palpebral fissure Short philtrum Restlessness Gingival overgrowth Wide mouth Tremor Striae distensae Gait disturbance Blepharophimosis Tics Epicanthus Camptodactyly of finger Hypoplasia of the corpus callosum Short neck Hypertonia Sandal gap Moderately short stature Acanthosis nigricans Mitral valve prolapse Immunodeficiency Ventricular septal defect Depressed nasal bridge Specific learning disability Pigmentary retinopathy Sleep disturbance Ascites Left ventricular hypertrophy Abdominal distention Asthma Recurrent otitis media Cyanosis Type II diabetes mellitus Pulmonary arterial hypertension Urinary incontinence Round face Hepatitis Gastrointestinal hemorrhage Progressive visual loss Optic disc pallor Involuntary movements Wormian bones Anorexia Nephritis Abnormality of the hand Elevated alkaline phosphatase Precocious puberty Hyperinsulinemia Portal hypertension Polydipsia Chronic otitis media Cone/cone-rod dystrophy Obsessive-compulsive behavior Aplasia/Hypoplasia of the cerebellum Constriction of peripheral visual field Impaired vibratory sensation Hyperostosis Diabetes insipidus Glucose intolerance Polycystic ovaries Tachypnea Abnormality of retinal pigmentation Generalized hirsutism Insulin resistance Decreased liver function Hepatic fibrosis Sinusitis Recurrent pneumonia Horizontal nystagmus Increased body weight Hypogonadotrophic hypogonadism Hypercholesterolemia Nephrocalcinosis Absence seizures Accelerated skeletal maturation Macular degeneration Atherosclerosis Hyperlipidemia Pancreatitis Nephropathy Cough Hepatic steatosis Superiorly displaced ears Motor tics Torus palatinus Posterior scalloping of vertebral bodies Absent facial hair Increased size of the mandible Calcification of the auricular cartilage Hypertension Absent axillary hair Optic atrophy Fatigue Respiratory insufficiency Respiratory distress Cardiomyopathy Blindness Vomiting Basilar impression Posterior polar cataract Renal insufficiency Intrauterine growth retardation Ankle clonus Basal ganglia calcification Sparse body hair Congenital hypothyroidism Hip contracture Irregular vertebral endplates Thoracic kyphosis Abnormal glucose tolerance Progressive gait ataxia Broad face Dystrophic fingernails Generalized osteoporosis Recurrent ear infections Ectopic calcification Narrow iliac wings Dystonia Depressivity Retinal dystrophy Pulmonic stenosis Scarring Nyctalopia Emphysema Dilated cardiomyopathy Generalized tonic-clonic seizures Ophthalmoplegia Carious teeth Autistic behavior Infertility Retinal degeneration Stage 5 chronic kidney disease Nausea Cirrhosis Tachycardia Hepatic failure Abnormality of the liver Pallor Encephalopathy Weight loss Visual loss Hyporeflexia Constipation Recurrent respiratory infections Rod-cone dystrophy Myoclonus Abdominal pain Gastroesophageal reflux Respiratory tract infection Jaundice Photophobia Elevated hepatic transaminase Myalgia Proteinuria Irritability Postnatal growth retardation Polyuria Bronchitis Pulmonary fibrosis Localized hirsutism Recurrent cystitis Widely-spaced incisors Abnormal retinal artery morphology Precocious puberty in females EEG with occipital slowing Abnormality of prothrombin Abnormality of renal calyx morphology Vitreous haze Unilateral breast hypoplasia Abnormality of the femoral head Cleft lip Micromelia Postaxial polydactyly Ambiguous genitalia Holoprosencephaly Aplasia/Hypoplasia of the corpus callosum Adrenal hypoplasia Glue ear Dilatation of the bladder Barrel-shaped chest Childhood-onset truncal obesity Abnormality of the pituitary gland Hypoplastic male external genitalia Hepatic necrosis Chronic hepatic failure Facial hirsutism ST segment depression Multifocal atrial tachycardia High-frequency sensorineural hearing impairment Thickened ears Increased circulating androgen level Exudative retinopathy Nonproductive cough Abnormal adipose tissue morphology Chronic active hepatitis Hyperostosis frontalis interna Receptive language delay Granular macular appearance Depressed nasal tip Shield chest Squared iliac bones Absent nipple Freckling Hypoplastic nipples Ectrodactyly Split foot Fair hair Generalized hypopigmentation Sparse axillary hair Breast hypoplasia Dermal atrophy Nasolacrimal duct obstruction Toenail dysplasia Fingernail dysplasia Lacrimal duct stenosis Nail pits Lacrimal duct atresia Conical incisor Premature loss of permanent teeth Abnormality of dental morphology Oligodontia Ulnar deviation of the hand Eczema Microphallus Ulnar deviation of the hand or of fingers of the hand Nail dystrophy Anal atresia Hypodontia Nail dysplasia Microdontia Fine hair Conjunctivitis Cutaneous photosensitivity Inflammatory abnormality of the skin Split hand Thin skin Abnormality of the face Skin ulcer Abnormality of the nail Finger clinodactyly Urethral obstruction Renovascular hypertension Hydroureter Acute hepatic failure Posterior subcapsular cataract Gingivitis Pendular nystagmus Tubulointerstitial nephritis Attenuation of retinal blood vessels Right ventricular hypertrophy Elevated serum creatinine Recurrent bronchitis Hyperventilation Tubular atrophy Myocarditis Male hypogonadism Myocardial fibrosis Chronic fatigue Chronic obstructive pulmonary disease Esophageal varix Restrictive cardiomyopathy Oligomenorrhea Peripheral visual field loss Decreased HDL cholesterol concentration Progressive sensorineural hearing impairment Urinary urgency Abnormal retinal morphology Pericardial effusion Chorioretinal atrophy Polyphagia Short finger Agenesis of permanent teeth Glomerulopathy Retinal atrophy Glycosuria Anonychia Hyperuricemia Subcapsular cataract Pericarditis Thoracic scoliosis Autoimmune thrombocytopenia Hypoventilation High-frequency hearing impairment Menstrual irregularities Albuminuria Chronic infection Frontal balding Hematemesis Melena First degree atrioventricular block Abnormality of the optic disc Decreased glomerular filtration rate Abnormal spermatogenesis Abnormality of the urethra Vertical nystagmus Lumbar scoliosis Abnormality of dental color Epigastric pain Abnormal chorioretinal morphology Urethral stricture Impaired temperature sensation Female hypogonadism Abnormal muscle tone Increased total bilirubin Bull's eye maculopathy Abnormal renal morphology Arteriosclerosis Endocardial fibroelastosis Retinal pigment epithelial atrophy Disinhibition Abnormal renal physiology Abnormal left ventricle morphology Testicular atrophy Tubulointerstitial fibrosis Elevated C-reactive protein level Urinary retention Multinodular goiter Poor fine motor coordination Pyelonephritis Chills Acute pancreatitis Achromatopsia Urethral stenosis Hepatic encephalopathy Abnormality of female external genitalia Mixed hearing impairment Scheuermann-like vertebral changes Bilateral cryptorchidism Drooling Subcutaneous nodule Biparietal narrowing Cafe-au-lait spot Lymphopenia Neoplasm of the skin Cranial nerve paralysis Hemangioma Decreased antibody level in blood Increased intracranial pressure Hypopigmented skin patches Melanoma Breast carcinoma Cerebellar vermis atrophy Palmoplantar hyperkeratosis Incoordination Broad thumb Lymphoma Intracranial hemorrhage Abnormal hair pattern Abnormality of earlobe Diarrhea Abdominal obesity Headache Panhypopituitarism Recurrent infections Distal lower limb amyotrophy Abnormal cerebellum morphology Proximal muscle weakness Carcinoma Down-sloping shoulders Leukemia Papule Nausea and vomiting Palmoplantar keratoderma Dysdiadochokinesis Hand polydactyly Mood swings Abnormality of the uterus Skin tags Megalencephaly Meningioma Hydrocele testis Arteriovenous malformation Furrowed tongue Astrocytoma Papilledema Cortical gyral simplification Intestinal polyposis Cortical dysplasia Cellular immunodeficiency Long penis Cavernous hemangioma Enlarged polycystic ovaries Prolactin excess Abnormality of the vasculature Abnormality of the musculature Multiple cafe-au-lait spots Cutis marmorata Macule Abnormality of the thyroid gland Multiple lipomas Cystic hygroma Cellulitis Acute myeloid leukemia Lipoma Hamartoma Hyperthyroidism Ovarian neoplasm Thyroiditis Hodgkin lymphoma Renal cell carcinoma Hashimoto thyroiditis Small earlobe Myopia Hamartomatous polyposis Prominent coccyx Anterior segment developmental abnormality Vacuolated lymphocytes Thoracolumbar kyphosis Broad alveolar ridges Multiple skeletal anomalies Broad clavicles Serpentine fibula Concave nasal ridge Cortical irregularity Anterior concavity of thoracic vertebrae Dental malocclusion Broad nasal tip Delayed eruption of teeth Single transverse palmar crease Long philtrum Buphthalmos Beaking of vertebral bodies Thin vermilion border Bowing of the long bones Wide anterior fontanel Abnormality of the metacarpal bones Short long bone Short phalanx of finger Flat occiput Tricuspid regurgitation Flared metaphysis Abnormally large globe Delayed cranial suture closure Congenital glaucoma Aseptic necrosis Megalocornea Premature loss of teeth Double outlet right ventricle Genu recurvatum Thick vermilion border Smooth philtrum Abnormality of toe Absent toe Avascular necrosis of the capital femoral epiphysis Vaginal atresia Thick nasal alae Multiple exostoses Prune belly Hydrometrocolpos Aplasia/Hypoplasia of the mandible Spinal cord compression Mild postnatal growth retardation Persistent cloaca Rib exostoses Scapular exostoses Multiple long-bone exostoses Redundant skin in infancy Muscle weakness Fragile nails Cone-shaped epiphyses of the phalanges of the hand Thin upper lip vermilion Bilateral single transverse palmar creases Corneal opacity Stroke Umbilical hernia Talipes Skeletal dysplasia Glaucoma Bone pain Joint dislocation Exostoses Scapular winging Prominent forehead Recurrent upper respiratory tract infections Deep philtrum Redundant skin Preaxial polydactyly Cone-shaped epiphysis Papilloma Fibroma Self-injurious behavior Bilateral camptodactyly Facial telangiectasia Panniculitis Episcleritis Snoring Stiff skin Cervical lymphadenopathy Upper eyelid edema Generalized lymphadenopathy Retroperitoneal fibrosis Seborrheic keratosis Feeding difficulties in infancy Hyperactivity Tapered finger Narrow forehead Heterotopia Myelofibrosis Corneal arcus Hammertoe Decreased serum testosterone level Exocrine pancreatic insufficiency Enlarged kidney Abnormal eyebrow morphology Aspiration pneumonia Varicose veins Communicating hydrocephalus Recurrent pharyngitis Broad finger Nasal obstruction Skin nodule Histiocytosis Reticulocytopenia Chronic rhinitis Abnormality of cardiovascular system physiology Pancreatic hypoplasia Prominent supraorbital ridges Abnormality of neuronal migration Polycythemia Neurodegeneration Abnormal pyramidal sign Congenital cataract Narrow chest Distal amyotrophy Short distal phalanx of finger Downturned corners of mouth Cerebral calcification Babinski sign Bradykinesia Abnormal form of the vertebral bodies Clonus Paraparesis Knee flexion contracture Spastic paraparesis Schizophrenia Developmental regression Areflexia External genital hypoplasia Shortening of all distal phalanges of the fingers Abnormality of the hip bone Thickened calvaria Hypopituitarism Broad neck Absent speech Short 5th finger Large earlobe Camptodactyly of toe Microphthalmia Long ear Diabetic ketoacidosis Shortening of all middle phalanges of the fingers Cervical spinal canal stenosis Widely spaced toes Hypoplasia of the prostate Short chin Episodic fever Scleroderma Generalized hyperkeratosis Conjunctival hamartoma Neoplasm of the thyroid gland Fibroadenoma of the breast Cutis marmorata telangiectatica congenita Enlarged cerebellum Trichilemmoma Dysplastic gangliocytoma of the cerebellum Ductal carcinoma in situ Acrokeratosis Merkel cell skin cancer Multiple trichilemmomata Lobular carcinoma in situ Open bite Large hands Cubitus valgus Hyperreflexia Transitional cell carcinoma of the bladder Mucosal telangiectasiae Fever Angioid streaks of the fundus Neoplasm of the central nervous system Decreased proportion of CD4-positive T cells Adenoma sebaceum Colonic diverticula Subcutaneous lipoma Abnormality of the penis Ovarian carcinoma Pseudopapilledema Intestinal polyp Thyroid adenoma Varicocele Follicular thyroid carcinoma Endometrial carcinoma Colorectal polyposis Progressive macrocephaly Cachexia Edema Lipoatrophy Azoospermia Primary amenorrhea Bronchiectasis Aspiration Neurological speech impairment Elbow flexion contracture Type I diabetes mellitus Sleep apnea Epistaxis Psoriasiform dermatitis Stridor Leukocytosis Hallux valgus Increased antibody level in blood Elevated erythrocyte sedimentation rate Microcytic anemia Blue sclerae Bilateral sensorineural hearing impairment Relative macrocephaly Memory impairment Short thumb Severe short stature Posteriorly rotated ears Broad-based gait Apnea Abnormal cardiac septum morphology Pectus carinatum Malabsorption Small hand Abnormality of the foot Prominent nose Ichthyosis Flat face Polyneuropathy Recurrent fractures Short foot Adermatoglyphia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Hypoglycemia, related diseases and genetic alterations Intellectual disability, severe and Camptodactyly, related diseases and genetic alterations

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